SNP Links for Protein (Select 335892798) - SNP

Links from Protein

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Select item 14893186591.

rs1489318659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72230402 (GRCh38)
10:73990160 (GRCh37)
Canonical SPDI:: NC_000010.11:72230401:G:A
Gene:: ANAPC16 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72230402G>A, NC_000010.10:g.73990160G>A, NM_173473.4:c.179G>A, NM_173473.3:c.179G>A, NM_001242546.2:c.179G>A, NM_001242546.1:c.179G>A, NM_001242547.2:c.179G>A, NM_001242547.1:c.179G>A, NR_038392.2:n.164G>A, NR_038392.1:n.176G>A, NR_038391.2:n.98G>A, NR_038391.1:n.110G>A, XM_047424580.1:c.179G>A, XM_047424582.1:c.179G>A, NM_001366791.1:c.179G>A, NP_775744.1:p.Ser60Asn, NP_001229475.1:p.Ser60Asn, NP_001229476.1:p.Ser60Asn, XP_047280536.1:p.Ser60Asn, XP_047280538.1:p.Ser60Asn, NP_001353720.1:p.Ser60Asn

Select item 14883668622.

rs1488366862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:72224023 (GRCh38)
10:73983781 (GRCh37)
Canonical SPDI:: NC_000010.11:72224022:A:T
Gene:: ANAPC16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72224023A>T, NC_000010.10:g.73983781A>T, NM_173473.4:c.109A>T, NM_173473.3:c.109A>T, NM_001242546.2:c.109A>T, NM_001242546.1:c.109A>T, NM_001242547.2:c.109A>T, NM_001242547.1:c.109A>T, NM_001242548.2:c.109A>T, NM_001242548.1:c.109A>T, XM_047424580.1:c.109A>T, XM_047424582.1:c.109A>T, NM_001366791.1:c.109A>T, NP_775744.1:p.Thr37Ser, NP_001229475.1:p.Thr37Ser, NP_001229476.1:p.Thr37Ser, NP_001229477.1:p.Thr37Ser, XP_047280536.1:p.Thr37Ser, XP_047280538.1:p.Thr37Ser, NP_001353720.1:p.Thr37Ser

Select item 14845049113.

rs1484504911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72223979 (GRCh38)
10:73983737 (GRCh37)
Canonical SPDI:: NC_000010.11:72223978:G:A
Gene:: ANAPC16 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72223979G>A, NC_000010.10:g.73983737G>A, NM_173473.4:c.65G>A, NM_173473.3:c.65G>A, NM_001242546.2:c.65G>A, NM_001242546.1:c.65G>A, NM_001242547.2:c.65G>A, NM_001242547.1:c.65G>A, NM_001242548.2:c.65G>A, NM_001242548.1:c.65G>A, XM_047424580.1:c.65G>A, XM_047424582.1:c.65G>A, NM_001366791.1:c.65G>A, NP_775744.1:p.Gly22Asp, NP_001229475.1:p.Gly22Asp, NP_001229476.1:p.Gly22Asp, NP_001229477.1:p.Gly22Asp, XP_047280536.1:p.Gly22Asp, XP_047280538.1:p.Gly22Asp, NP_001353720.1:p.Gly22Asp

Select item 14775336964.

rs1477533696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:72233097 (GRCh38)
10:73992855 (GRCh37)
Canonical SPDI:: NC_000010.11:72233096:T:C
Gene:: ANAPC16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72233097T>C, NC_000010.10:g.73992855T>C, NM_173473.4:c.314T>C, NM_173473.3:c.314T>C, NM_001242546.2:c.314T>C, NM_001242546.1:c.314T>C, NM_001242547.2:c.314T>C, NM_001242547.1:c.314T>C, NM_001242548.2:c.239T>C, NM_001242548.1:c.239T>C, NR_038392.2:n.299T>C, NR_038392.1:n.311T>C, NR_038391.2:n.233T>C, NR_038391.1:n.245T>C, XM_047424580.1:c.314T>C, XM_047424582.1:c.314T>C, NM_001366791.1:c.314T>C, NP_775744.1:p.Phe105Ser, NP_001229475.1:p.Phe105Ser, NP_001229476.1:p.Phe105Ser, NP_001229477.1:p.Phe80Ser, XP_047280536.1:p.Phe105Ser, XP_047280538.1:p.Phe105Ser, NP_001353720.1:p.Phe105Ser

Select item 14762027575.

rs1476202757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72223989 (GRCh38)
10:73983747 (GRCh37)
Canonical SPDI:: NC_000010.11:72223988:C:T
Gene:: ANAPC16 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72223989C>T, NC_000010.10:g.73983747C>T, NM_173473.4:c.75C>T, NM_173473.3:c.75C>T, NM_001242546.2:c.75C>T, NM_001242546.1:c.75C>T, NM_001242547.2:c.75C>T, NM_001242547.1:c.75C>T, NM_001242548.2:c.75C>T, NM_001242548.1:c.75C>T, XM_047424580.1:c.75C>T, XM_047424582.1:c.75C>T, NM_001366791.1:c.75C>T

Select item 14633148566.

rs1463314856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72230383 (GRCh38)
10:73990141 (GRCh37)
Canonical SPDI:: NC_000010.11:72230382:C:T
Gene:: ANAPC16 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72230383C>T, NC_000010.10:g.73990141C>T, NM_173473.4:c.160C>T, NM_173473.3:c.160C>T, NM_001242546.2:c.160C>T, NM_001242546.1:c.160C>T, NM_001242547.2:c.160C>T, NM_001242547.1:c.160C>T, NR_038392.2:n.145C>T, NR_038392.1:n.157C>T, NR_038391.2:n.79C>T, NR_038391.1:n.91C>T, XM_047424580.1:c.160C>T, XM_047424582.1:c.160C>T, NM_001366791.1:c.160C>T, NP_775744.1:p.Leu54Phe, NP_001229475.1:p.Leu54Phe, NP_001229476.1:p.Leu54Phe, XP_047280536.1:p.Leu54Phe, XP_047280538.1:p.Leu54Phe, NP_001353720.1:p.Leu54Phe

Select item 14504398137.

rs1450439813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:72224034 (GRCh38)
10:73983792 (GRCh37)
Canonical SPDI:: NC_000010.11:72224033:A:C
Gene:: ANAPC16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000010.11:g.72224034A>C, NC_000010.10:g.73983792A>C, NM_173473.4:c.120A>C, NM_173473.3:c.120A>C, NM_001242546.2:c.120A>C, NM_001242546.1:c.120A>C, NM_001242547.2:c.120A>C, NM_001242547.1:c.120A>C, NM_001242548.2:c.120A>C, NM_001242548.1:c.120A>C, XM_047424580.1:c.120A>C, XM_047424582.1:c.120A>C, NM_001366791.1:c.120A>C, NP_775744.1:p.Lys40Asn, NP_001229475.1:p.Lys40Asn, NP_001229476.1:p.Lys40Asn, NP_001229477.1:p.Lys40Asn, XP_047280536.1:p.Lys40Asn, XP_047280538.1:p.Lys40Asn, NP_001353720.1:p.Lys40Asn

Select item 14351686898.

rs1435168689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:72233005 (GRCh38)
10:73992763 (GRCh37)
Canonical SPDI:: NC_000010.11:72233004:G:T
Gene:: ANAPC16 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72233005G>T, NC_000010.10:g.73992763G>T, NM_173473.4:c.222G>T, NM_173473.3:c.222G>T, NM_001242546.2:c.222G>T, NM_001242546.1:c.222G>T, NM_001242547.2:c.222G>T, NM_001242547.1:c.222G>T, NM_001242548.2:c.147G>T, NM_001242548.1:c.147G>T, NR_038392.2:n.207G>T, NR_038392.1:n.219G>T, NR_038391.2:n.141G>T, NR_038391.1:n.153G>T, XM_047424580.1:c.222G>T, XM_047424582.1:c.222G>T, NM_001366791.1:c.222G>T, NP_775744.1:p.Gln74His, NP_001229475.1:p.Gln74His, NP_001229476.1:p.Gln74His, NP_001229477.1:p.Gln49His, XP_047280536.1:p.Gln74His, XP_047280538.1:p.Gln74His, NP_001353720.1:p.Gln74His

Select item 14136656519.

rs1413665651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72224008 (GRCh38)
10:73983766 (GRCh37)
Canonical SPDI:: NC_000010.11:72224007:C:T
Gene:: ANAPC16 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.72224008C>T, NC_000010.10:g.73983766C>T, NM_173473.4:c.94C>T, NM_173473.3:c.94C>T, NM_001242546.2:c.94C>T, NM_001242546.1:c.94C>T, NM_001242547.2:c.94C>T, NM_001242547.1:c.94C>T, NM_001242548.2:c.94C>T, NM_001242548.1:c.94C>T, XM_047424580.1:c.94C>T, XM_047424582.1:c.94C>T, NM_001366791.1:c.94C>T, NP_775744.1:p.Arg32Trp, NP_001229475.1:p.Arg32Trp, NP_001229476.1:p.Arg32Trp, NP_001229477.1:p.Arg32Trp, XP_047280536.1:p.Arg32Trp, XP_047280538.1:p.Arg32Trp, NP_001353720.1:p.Arg32Trp

Select item 140423857910.

rs1404238579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:72223967 (GRCh38)
10:73983725 (GRCh37)
Canonical SPDI:: NC_000010.11:72223966:T:C
Gene:: ANAPC16 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00137/4 (KOREAN)
C=0.00209/35 (TOMMO)
HGVS:: NC_000010.11:g.72223967T>C, NC_000010.10:g.73983725T>C, NM_173473.4:c.53T>C, NM_173473.3:c.53T>C, NM_001242546.2:c.53T>C, NM_001242546.1:c.53T>C, NM_001242547.2:c.53T>C, NM_001242547.1:c.53T>C, NM_001242548.2:c.53T>C, NM_001242548.1:c.53T>C, XM_047424580.1:c.53T>C, XM_047424582.1:c.53T>C, NM_001366791.1:c.53T>C, NP_775744.1:p.Val18Ala, NP_001229475.1:p.Val18Ala, NP_001229476.1:p.Val18Ala, NP_001229477.1:p.Val18Ala, XP_047280536.1:p.Val18Ala, XP_047280538.1:p.Val18Ala, NP_001353720.1:p.Val18Ala

Select item 139791224211.

rs1397912242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72223941 (GRCh38)
10:73983699 (GRCh37)
Canonical SPDI:: NC_000010.11:72223940:A:G
Gene:: ANAPC16 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000010.11:g.72223941A>G, NC_000010.10:g.73983699A>G, NM_173473.4:c.27A>G, NM_173473.3:c.27A>G, NM_001242546.2:c.27A>G, NM_001242546.1:c.27A>G, NM_001242547.2:c.27A>G, NM_001242547.1:c.27A>G, NM_001242548.2:c.27A>G, NM_001242548.1:c.27A>G, XM_047424580.1:c.27A>G, XM_047424582.1:c.27A>G, NM_001366791.1:c.27A>G

Select item 138255801512.

rs1382558015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 10:72230432 (GRCh38)
10:73990190 (GRCh37)
Canonical SPDI:: NC_000010.11:72230431:T:A,NC_000010.11:72230431:T:G
Gene:: ANAPC16 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.72230432T>A, NC_000010.11:g.72230432T>G, NC_000010.10:g.73990190T>A, NC_000010.10:g.73990190T>G, NM_173473.4:c.209T>A, NM_173473.4:c.209T>G, NM_173473.3:c.209T>A, NM_173473.3:c.209T>G, NM_001242546.2:c.209T>A, NM_001242546.2:c.209T>G, NM_001242546.1:c.209T>A, NM_001242546.1:c.209T>G, NM_001242547.2:c.209T>A, NM_001242547.2:c.209T>G, NM_001242547.1:c.209T>A, NM_001242547.1:c.209T>G, NR_038392.2:n.194T>A, NR_038392.2:n.194T>G, NR_038392.1:n.206T>A, NR_038392.1:n.206T>G, NR_038391.2:n.128T>A, NR_038391.2:n.128T>G, NR_038391.1:n.140T>A, NR_038391.1:n.140T>G, XM_047424580.1:c.209T>A, XM_047424580.1:c.209T>G, XM_047424582.1:c.209T>A, XM_047424582.1:c.209T>G, NM_001366791.1:c.209T>A, NM_001366791.1:c.209T>G, NP_775744.1:p.Val70Glu, NP_775744.1:p.Val70Gly, NP_001229475.1:p.Val70Glu, NP_001229475.1:p.Val70Gly, NP_001229476.1:p.Val70Glu, NP_001229476.1:p.Val70Gly, XP_047280536.1:p.Val70Glu, XP_047280536.1:p.Val70Gly, XP_047280538.1:p.Val70Glu, XP_047280538.1:p.Val70Gly, NP_001353720.1:p.Val70Glu, NP_001353720.1:p.Val70Gly

Select item 137280584713.

rs1372805847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72233116 (GRCh38)
10:73992874 (GRCh37)
Canonical SPDI:: NC_000010.11:72233115:A:G
Gene:: ANAPC16 (Varview)
Functional Consequence:: non_coding_transcript_variant,terminator_codon_variant,stop_lost
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72233116A>G, NC_000010.10:g.73992874A>G, NM_173473.4:c.333A>G, NM_173473.3:c.333A>G, NM_001242546.2:c.333A>G, NM_001242546.1:c.333A>G, NM_001242547.2:c.333A>G, NM_001242547.1:c.333A>G, NM_001242548.2:c.258A>G, NM_001242548.1:c.258A>G, NR_038392.2:n.318A>G, NR_038392.1:n.330A>G, NR_038391.2:n.252A>G, NR_038391.1:n.264A>G, XM_047424580.1:c.333A>G, XM_047424582.1:c.333A>G, NM_001366791.1:c.333A>G, NP_775744.1:p.Ter111Trp, NP_001229475.1:p.Ter111Trp, NP_001229476.1:p.Ter111Trp, NP_001229477.1:p.Ter86Trp, XP_047280536.1:p.Ter111Trp, XP_047280538.1:p.Ter111Trp, NP_001353720.1:p.Ter111Trp

Select item 135617462514.

rs1356174625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72233045 (GRCh38)
10:73992803 (GRCh37)
Canonical SPDI:: NC_000010.11:72233044:G:A
Gene:: ANAPC16 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72233045G>A, NC_000010.10:g.73992803G>A, NM_173473.4:c.262G>A, NM_173473.3:c.262G>A, NM_001242546.2:c.262G>A, NM_001242546.1:c.262G>A, NM_001242547.2:c.262G>A, NM_001242547.1:c.262G>A, NM_001242548.2:c.187G>A, NM_001242548.1:c.187G>A, NR_038392.2:n.247G>A, NR_038392.1:n.259G>A, NR_038391.2:n.181G>A, NR_038391.1:n.193G>A, XM_047424580.1:c.262G>A, XM_047424582.1:c.262G>A, NM_001366791.1:c.262G>A, NP_775744.1:p.Glu88Lys, NP_001229475.1:p.Glu88Lys, NP_001229476.1:p.Glu88Lys, NP_001229477.1:p.Glu63Lys, XP_047280536.1:p.Glu88Lys, XP_047280538.1:p.Glu88Lys, NP_001353720.1:p.Glu88Lys

Select item 134255708815.

rs1342557088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72233025 (GRCh38)
10:73992783 (GRCh37)
Canonical SPDI:: NC_000010.11:72233024:A:G
Gene:: ANAPC16 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72233025A>G, NC_000010.10:g.73992783A>G, NM_173473.4:c.242A>G, NM_173473.3:c.242A>G, NM_001242546.2:c.242A>G, NM_001242546.1:c.242A>G, NM_001242547.2:c.242A>G, NM_001242547.1:c.242A>G, NM_001242548.2:c.167A>G, NM_001242548.1:c.167A>G, NR_038392.2:n.227A>G, NR_038392.1:n.239A>G, NR_038391.2:n.161A>G, NR_038391.1:n.173A>G, XM_047424580.1:c.242A>G, XM_047424582.1:c.242A>G, NM_001366791.1:c.242A>G, NP_775744.1:p.Lys81Arg, NP_001229475.1:p.Lys81Arg, NP_001229476.1:p.Lys81Arg, NP_001229477.1:p.Lys56Arg, XP_047280536.1:p.Lys81Arg, XP_047280538.1:p.Lys81Arg, NP_001353720.1:p.Lys81Arg

Select item 134040312216.

rs1340403122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:72223971 (GRCh38)
10:73983729 (GRCh37)
Canonical SPDI:: NC_000010.11:72223970:T:C
Gene:: ANAPC16 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72223971T>C, NC_000010.10:g.73983729T>C, NM_173473.4:c.57T>C, NM_173473.3:c.57T>C, NM_001242546.2:c.57T>C, NM_001242546.1:c.57T>C, NM_001242547.2:c.57T>C, NM_001242547.1:c.57T>C, NM_001242548.2:c.57T>C, NM_001242548.1:c.57T>C, XM_047424580.1:c.57T>C, XM_047424582.1:c.57T>C, NM_001366791.1:c.57T>C

Select item 133680903517.

rs1336809035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72233054 (GRCh38)
10:73992812 (GRCh37)
Canonical SPDI:: NC_000010.11:72233053:G:A
Gene:: ANAPC16 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.72233054G>A, NC_000010.10:g.73992812G>A, NM_173473.4:c.271G>A, NM_173473.3:c.271G>A, NM_001242546.2:c.271G>A, NM_001242546.1:c.271G>A, NM_001242547.2:c.271G>A, NM_001242547.1:c.271G>A, NM_001242548.2:c.196G>A, NM_001242548.1:c.196G>A, NR_038392.2:n.256G>A, NR_038392.1:n.268G>A, NR_038391.2:n.190G>A, NR_038391.1:n.202G>A, XM_047424580.1:c.271G>A, XM_047424582.1:c.271G>A, NM_001366791.1:c.271G>A, NP_775744.1:p.Ala91Thr, NP_001229475.1:p.Ala91Thr, NP_001229476.1:p.Ala91Thr, NP_001229477.1:p.Ala66Thr, XP_047280536.1:p.Ala91Thr, XP_047280538.1:p.Ala91Thr, NP_001353720.1:p.Ala91Thr

Select item 132218976718.

rs1322189767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72230427 (GRCh38)
10:73990185 (GRCh37)
Canonical SPDI:: NC_000010.11:72230426:A:G
Gene:: ANAPC16 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72230427A>G, NC_000010.10:g.73990185A>G, NM_173473.4:c.204A>G, NM_173473.3:c.204A>G, NM_001242546.2:c.204A>G, NM_001242546.1:c.204A>G, NM_001242547.2:c.204A>G, NM_001242547.1:c.204A>G, NR_038392.2:n.189A>G, NR_038392.1:n.201A>G, NR_038391.2:n.123A>G, NR_038391.1:n.135A>G, XM_047424580.1:c.204A>G, XM_047424582.1:c.204A>G, NM_001366791.1:c.204A>G

Select item 131409623519.

rs1314096235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:72230398 (GRCh38)
10:73990156 (GRCh37)
Canonical SPDI:: NC_000010.11:72230397:T:C
Gene:: ANAPC16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72230398T>C, NC_000010.10:g.73990156T>C, NM_173473.4:c.175T>C, NM_173473.3:c.175T>C, NM_001242546.2:c.175T>C, NM_001242546.1:c.175T>C, NM_001242547.2:c.175T>C, NM_001242547.1:c.175T>C, NR_038392.2:n.160T>C, NR_038392.1:n.172T>C, NR_038391.2:n.94T>C, NR_038391.1:n.106T>C, XM_047424580.1:c.175T>C, XM_047424582.1:c.175T>C, NM_001366791.1:c.175T>C, NP_775744.1:p.Phe59Leu, NP_001229475.1:p.Phe59Leu, NP_001229476.1:p.Phe59Leu, XP_047280536.1:p.Phe59Leu, XP_047280538.1:p.Phe59Leu, NP_001353720.1:p.Phe59Leu

Select item 130729404420.

rs1307294044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72223937 (GRCh38)
10:73983695 (GRCh37)
Canonical SPDI:: NC_000010.11:72223936:C:T
Gene:: ANAPC16 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72223937C>T, NC_000010.10:g.73983695C>T, NM_173473.4:c.23C>T, NM_173473.3:c.23C>T, NM_001242546.2:c.23C>T, NM_001242546.1:c.23C>T, NM_001242547.2:c.23C>T, NM_001242547.1:c.23C>T, NM_001242548.2:c.23C>T, NM_001242548.1:c.23C>T, XM_047424580.1:c.23C>T, XM_047424582.1:c.23C>T, NM_001366791.1:c.23C>T, NP_775744.1:p.Ser8Phe, NP_001229475.1:p.Ser8Phe, NP_001229476.1:p.Ser8Phe, NP_001229477.1:p.Ser8Phe, XP_047280536.1:p.Ser8Phe, XP_047280538.1:p.Ser8Phe, NP_001353720.1:p.Ser8Phe

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