SNP Links for Protein (Select 1034654253) - SNP

Links from Protein

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Select item 14891939361.

rs1489193936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:73840519 (GRCh38)
7:73254849 (GRCh37)
Canonical SPDI:: NC_000007.14:73840518:C:A,NC_000007.14:73840518:C:T
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000007.14:g.73840519C>A, NC_000007.14:g.73840519C>T, NC_000007.13:g.73254849C>A, NC_000007.13:g.73254849C>T, NG_023289.1:g.7007G>T, NG_023289.1:g.7007G>A, NM_152559.3:c.283G>T, NM_152559.3:c.283G>A, NM_152559.2:c.283G>T, NM_152559.2:c.283G>A, NW_003871064.1:g.1369755C>A, NW_003871064.1:g.1369755C>T, XM_017011778.2:c.283G>T, XM_017011778.2:c.283G>A, XM_017011778.1:c.283G>T, XM_017011778.1:c.283G>A, XR_001744563.2:n.314G>T, XR_001744563.2:n.314G>A, XR_001744563.1:n.325G>T, XR_001744563.1:n.325G>A, XM_017011777.2:c.283G>T, XM_017011777.2:c.283G>A, XM_017011777.1:c.283G>T, XM_017011777.1:c.283G>A, NP_689772.2:p.Gly95Trp, NP_689772.2:p.Gly95Arg, XP_016867267.1:p.Gly95Trp, XP_016867267.1:p.Gly95Arg, XP_016867266.1:p.Gly95Trp, XP_016867266.1:p.Gly95Arg

Select item 14790973742.

rs1479097374 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGTCGAAGGTCC>- [Show Flanks]
Chromosome:: 7:73840108 (GRCh38)
7:73254438 (GRCh37)
Canonical SPDI:: NC_000007.14:73840105:CCGCGTCGAAGGTCC:CC
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73840108_73840120del, NC_000007.13:g.73254438_73254450del, NG_023289.1:g.7408_7420del, NM_152559.3:c.391_403del, NM_152559.2:c.391_403del, NW_003871064.1:g.1369344_1369356del, XM_017011778.2:c.391_403del, XM_017011778.1:c.391_403del, XR_001744563.2:n.422_434del, XR_001744563.1:n.433_445del, XM_017011777.2:c.391_403del, XM_017011777.1:c.391_403del, NP_689772.2:p.Thr131fs, XP_016867267.1:p.Thr131fs, XP_016867266.1:p.Thr131fs

Select item 14596395863.

rs1459639586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73841184 (GRCh38)
7:73255514 (GRCh37)
Canonical SPDI:: NC_000007.14:73841183:C:T
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73841184C>T, NC_000007.13:g.73255514C>T, NG_023289.1:g.6342G>A, NM_152559.3:c.138G>A, NM_152559.2:c.138G>A, NW_003871064.1:g.1370420C>T, XM_017011778.2:c.138G>A, XM_017011778.1:c.138G>A, XR_001744563.2:n.169G>A, XR_001744563.1:n.180G>A, XM_017011777.2:c.138G>A, XM_017011777.1:c.138G>A

Select item 14467494544.

rs1446749454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73834746 (GRCh38)
7:73249076 (GRCh37)
Canonical SPDI:: NC_000007.14:73834745:C:T
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.73834746C>T, NC_000007.13:g.73249076C>T, NG_023289.1:g.12780G>A, NM_152559.3:c.735G>A, NM_152559.2:c.735G>A, NW_003871064.1:g.1363982C>T, XM_017011778.2:c.813G>A, XM_017011778.1:c.813G>A, XR_001744563.2:n.944G>A, XM_017011777.2:c.813G>A, XM_017011777.1:c.813G>A

Select item 14437148375.

rs1443714837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73841070 (GRCh38)
7:73255400 (GRCh37)
Canonical SPDI:: NC_000007.14:73841069:C:T
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.73841070C>T, NC_000007.13:g.73255400C>T, NG_023289.1:g.6456G>A, NM_152559.3:c.252G>A, NM_152559.2:c.252G>A, NW_003871064.1:g.1370306C>T, XM_017011778.2:c.252G>A, XM_017011778.1:c.252G>A, XR_001744563.2:n.283G>A, XR_001744563.1:n.294G>A, XM_017011777.2:c.252G>A, XM_017011777.1:c.252G>A

Select item 14340608596.

rs1434060859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:73834943 (GRCh38)
7:73249273 (GRCh37)
Canonical SPDI:: NC_000007.14:73834942:G:C
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73834943G>C, NC_000007.13:g.73249273G>C, NG_023289.1:g.12583C>G, NM_152559.3:c.538C>G, NM_152559.2:c.538C>G, NW_003871064.1:g.1364179G>C, XM_017011778.2:c.616C>G, XM_017011778.1:c.616C>G, XR_001744563.2:n.747C>G, XR_001744563.1:n.758C>G, XM_017011777.2:c.616C>G, XM_017011777.1:c.616C>G, NP_689772.2:p.Leu180Val, XP_016867267.1:p.Leu206Val, XP_016867266.1:p.Leu206Val

Select item 14338110327.

rs1433811032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:73834976 (GRCh38)
7:73249306 (GRCh37)
Canonical SPDI:: NC_000007.14:73834975:T:C
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000007.14:g.73834976T>C, NC_000007.13:g.73249306T>C, NG_023289.1:g.12550A>G, NM_152559.3:c.505A>G, NM_152559.2:c.505A>G, NW_003871064.1:g.1364212T>C, XM_017011778.2:c.583A>G, XM_017011778.1:c.583A>G, XR_001744563.2:n.714A>G, XR_001744563.1:n.725A>G, XM_017011777.2:c.583A>G, XM_017011777.1:c.583A>G, NP_689772.2:p.Thr169Ala, XP_016867267.1:p.Thr195Ala, XP_016867266.1:p.Thr195Ala

Select item 14221296538.

rs1422129653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:73842072 (GRCh38)
7:73256402 (GRCh37)
Canonical SPDI:: NC_000007.14:73842071:G:A,NC_000007.14:73842071:G:C
Gene:: METTL27 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.73842072G>A, NC_000007.14:g.73842072G>C, NC_000007.13:g.73256402G>A, NC_000007.13:g.73256402G>C, NG_023289.1:g.5454C>T, NG_023289.1:g.5454C>G, NM_152559.3:c.69C>T, NM_152559.3:c.69C>G, NM_152559.2:c.69C>T, NM_152559.2:c.69C>G, NW_003871064.1:g.1371308G>A, NW_003871064.1:g.1371308G>C, XM_017011778.2:c.69C>T, XM_017011778.2:c.69C>G, XM_017011778.1:c.69C>T, XM_017011778.1:c.69C>G, XR_001744563.2:n.100C>T, XR_001744563.2:n.100C>G, XR_001744563.1:n.111C>T, XR_001744563.1:n.111C>G, XM_017011777.2:c.69C>T, XM_017011777.2:c.69C>G, XM_017011777.1:c.69C>T, XM_017011777.1:c.69C>G

Select item 14201237419.

rs1420123741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:73840089 (GRCh38)
7:73254419 (GRCh37)
Canonical SPDI:: NC_000007.14:73840088:G:T
Gene:: METTL27 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73840089G>T, NC_000007.13:g.73254419G>T, NG_023289.1:g.7437C>A, NM_152559.3:c.420C>A, NM_152559.2:c.420C>A, NW_003871064.1:g.1369325G>T, XM_017011778.2:c.420C>A, XM_017011778.1:c.420C>A, XR_001744563.2:n.451C>A, XR_001744563.1:n.462C>A, XM_017011777.2:c.420C>A, XM_017011777.1:c.420C>A

Select item 140690633910.

rs1406906339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:73842040 (GRCh38)
7:73256370 (GRCh37)
Canonical SPDI:: NC_000007.14:73842039:C:A,NC_000007.14:73842039:C:T
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.73842040C>A, NC_000007.14:g.73842040C>T, NC_000007.13:g.73256370C>A, NC_000007.13:g.73256370C>T, NG_023289.1:g.5486G>T, NG_023289.1:g.5486G>A, NM_152559.3:c.101G>T, NM_152559.3:c.101G>A, NM_152559.2:c.101G>T, NM_152559.2:c.101G>A, NW_003871064.1:g.1371276C>A, NW_003871064.1:g.1371276C>T, XM_017011778.2:c.101G>T, XM_017011778.2:c.101G>A, XM_017011778.1:c.101G>T, XM_017011778.1:c.101G>A, XR_001744563.2:n.132G>T, XR_001744563.2:n.132G>A, XR_001744563.1:n.143G>T, XR_001744563.1:n.143G>A, XM_017011777.2:c.101G>T, XM_017011777.2:c.101G>A, XM_017011777.1:c.101G>T, XM_017011777.1:c.101G>A, NP_689772.2:p.Arg34Leu, NP_689772.2:p.Arg34His, XP_016867267.1:p.Arg34Leu, XP_016867267.1:p.Arg34His, XP_016867266.1:p.Arg34Leu, XP_016867266.1:p.Arg34His

Select item 139950782311.

rs1399507823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73834764 (GRCh38)
7:73249094 (GRCh37)
Canonical SPDI:: NC_000007.14:73834763:C:T
Gene:: METTL27 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.73834764C>T, NC_000007.13:g.73249094C>T, NG_023289.1:g.12762G>A, NM_152559.3:c.717G>A, NM_152559.2:c.717G>A, NW_003871064.1:g.1364000C>T, XM_017011778.2:c.795G>A, XM_017011778.1:c.795G>A, XR_001744563.2:n.926G>A, XM_017011777.2:c.795G>A, XM_017011777.1:c.795G>A

Select item 138747616912.

rs1387476169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:73840464 (GRCh38)
7:73254794 (GRCh37)
Canonical SPDI:: NC_000007.14:73840463:T:C
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000007.14:g.73840464T>C, NC_000007.13:g.73254794T>C, NG_023289.1:g.7062A>G, NM_152559.3:c.338A>G, NM_152559.2:c.338A>G, NW_003871064.1:g.1369700T>C, XM_017011778.2:c.338A>G, XM_017011778.1:c.338A>G, XR_001744563.2:n.369A>G, XR_001744563.1:n.380A>G, XM_017011777.2:c.338A>G, XM_017011777.1:c.338A>G, NP_689772.2:p.Gln113Arg, XP_016867267.1:p.Gln113Arg, XP_016867266.1:p.Gln113Arg

Select item 137660109513.

rs1376601095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:73834832 (GRCh38)
7:73249162 (GRCh37)
Canonical SPDI:: NC_000007.14:73834831:A:C,NC_000007.14:73834831:A:G
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.00109/2 (Korea1K)
HGVS:: NC_000007.14:g.73834832A>C, NC_000007.14:g.73834832A>G, NC_000007.13:g.73249162A>C, NC_000007.13:g.73249162A>G, NG_023289.1:g.12694T>G, NG_023289.1:g.12694T>C, NM_152559.3:c.649T>G, NM_152559.3:c.649T>C, NM_152559.2:c.649T>G, NM_152559.2:c.649T>C, NW_003871064.1:g.1364068A>C, NW_003871064.1:g.1364068A>G, XM_017011778.2:c.727T>G, XM_017011778.2:c.727T>C, XM_017011778.1:c.727T>G, XM_017011778.1:c.727T>C, XR_001744563.2:n.858T>G, XR_001744563.2:n.858T>C, XM_017011777.2:c.727T>G, XM_017011777.2:c.727T>C, XM_017011777.1:c.727T>G, XM_017011777.1:c.727T>C, NP_689772.2:p.Trp217Gly, NP_689772.2:p.Trp217Arg, XP_016867267.1:p.Trp243Gly, XP_016867267.1:p.Trp243Arg, XP_016867266.1:p.Trp243Gly, XP_016867266.1:p.Trp243Arg

Select item 137659876314.

rs1376598763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:73840055 (GRCh38)
7:73254385 (GRCh37)
Canonical SPDI:: NC_000007.14:73840054:G:A,NC_000007.14:73840054:G:T
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000007.14:g.73840055G>A, NC_000007.14:g.73840055G>T, NC_000007.13:g.73254385G>A, NC_000007.13:g.73254385G>T, NG_023289.1:g.7471C>T, NG_023289.1:g.7471C>A, NM_152559.3:c.454C>T, NM_152559.3:c.454C>A, NM_152559.2:c.454C>T, NM_152559.2:c.454C>A, NW_003871064.1:g.1369291G>A, NW_003871064.1:g.1369291G>T, XM_017011778.2:c.454C>T, XM_017011778.2:c.454C>A, XM_017011778.1:c.454C>T, XM_017011778.1:c.454C>A, XR_001744563.2:n.485C>T, XR_001744563.2:n.485C>A, XR_001744563.1:n.496C>T, XR_001744563.1:n.496C>A, XM_017011777.2:c.454C>T, XM_017011777.2:c.454C>A, XM_017011777.1:c.454C>T, XM_017011777.1:c.454C>A, NP_689772.2:p.Pro152Ser, NP_689772.2:p.Pro152Thr, XP_016867267.1:p.Pro152Ser, XP_016867267.1:p.Pro152Thr, XP_016867266.1:p.Pro152Ser, XP_016867266.1:p.Pro152Thr

Select item 135694383615.

rs1356943836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73834752 (GRCh38)
7:73249082 (GRCh37)
Canonical SPDI:: NC_000007.14:73834751:C:T
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.73834752C>T, NC_000007.13:g.73249082C>T, NG_023289.1:g.12774G>A, NM_152559.3:c.729G>A, NM_152559.2:c.729G>A, NW_003871064.1:g.1363988C>T, XM_017011778.2:c.807G>A, XM_017011778.1:c.807G>A, XR_001744563.2:n.938G>A, XM_017011777.2:c.807G>A, XM_017011777.1:c.807G>A

Select item 135233385216.

rs1352333852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73834901 (GRCh38)
7:73249231 (GRCh37)
Canonical SPDI:: NC_000007.14:73834900:C:T
Gene:: METTL27 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000007.14:g.73834901C>T, NC_000007.13:g.73249231C>T, NG_023289.1:g.12625G>A, NM_152559.3:c.580G>A, NM_152559.2:c.580G>A, NW_003871064.1:g.1364137C>T, XM_017011778.2:c.658G>A, XM_017011778.1:c.658G>A, XR_001744563.2:n.789G>A, XM_017011777.2:c.658G>A, XM_017011777.1:c.658G>A, NP_689772.2:p.Glu194Lys, XP_016867267.1:p.Glu220Lys, XP_016867266.1:p.Glu220Lys

Select item 135038865217.

rs1350388652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73834855 (GRCh38)
7:73249185 (GRCh37)
Canonical SPDI:: NC_000007.14:73834854:C:T
Gene:: METTL27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.73834855C>T, NC_000007.13:g.73249185C>T, NG_023289.1:g.12671G>A, NM_152559.3:c.626G>A, NM_152559.2:c.626G>A, NW_003871064.1:g.1364091C>T, XM_017011778.2:c.704G>A, XM_017011778.1:c.704G>A, XR_001744563.2:n.835G>A, XM_017011777.2:c.704G>A, XM_017011777.1:c.704G>A, NP_689772.2:p.Ser209Asn, XP_016867267.1:p.Ser235Asn, XP_016867266.1:p.Ser235Asn

Select item 134670669418.

rs1346706694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73834945 (GRCh38)
7:73249275 (GRCh37)
Canonical SPDI:: NC_000007.14:73834944:G:A
Gene:: METTL27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.73834945G>A, NC_000007.13:g.73249275G>A, NG_023289.1:g.12581C>T, NM_152559.3:c.536C>T, NM_152559.2:c.536C>T, NW_003871064.1:g.1364181G>A, XM_017011778.2:c.614C>T, XM_017011778.1:c.614C>T, XR_001744563.2:n.745C>T, XR_001744563.1:n.756C>T, XM_017011777.2:c.614C>T, XM_017011777.1:c.614C>T, NP_689772.2:p.Ala179Val, XP_016867267.1:p.Ala205Val, XP_016867266.1:p.Ala205Val

Select item 133850575719.

rs1338505757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:73842135 (GRCh38)
7:73256465 (GRCh37)
Canonical SPDI:: NC_000007.14:73842134:G:C
Gene:: METTL27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.73842135G>C, NC_000007.13:g.73256465G>C, NG_023289.1:g.5391C>G, NM_152559.3:c.6C>G, NM_152559.2:c.6C>G, NW_003871064.1:g.1371371G>C, XM_017011778.2:c.6C>G, XM_017011778.1:c.6C>G, XR_001744563.2:n.37C>G, XR_001744563.1:n.48C>G, XM_017011777.2:c.6C>G, XM_017011777.1:c.6C>G

Select item 132612344120.

rs1326123441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:73842029 (GRCh38)
7:73256359 (GRCh37)
Canonical SPDI:: NC_000007.14:73842028:C:A
Gene:: METTL27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73842029C>A, NC_000007.13:g.73256359C>A, NG_023289.1:g.5497G>T, NM_152559.3:c.112G>T, NM_152559.2:c.112G>T, NW_003871064.1:g.1371265C>A, XM_017011778.2:c.112G>T, XM_017011778.1:c.112G>T, XR_001744563.2:n.143G>T, XR_001744563.1:n.154G>T, XM_017011777.2:c.112G>T, XM_017011777.1:c.112G>T, NP_689772.2:p.Asp38Tyr, XP_016867267.1:p.Asp38Tyr, XP_016867266.1:p.Asp38Tyr

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