SNP Links for Protein (Select 46409657) - SNP

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Links from Protein

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Select item 14878715601.

rs1487871560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:160258612 (GRCh38)
3:159976400 (GRCh37)
Canonical SPDI:: NC_000003.12:160258611:G:A
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160258612G>A, NC_000003.11:g.159976400G>A, NG_022932.2:g.145613C>T, NG_022932.1:g.145921C>T, NM_020800.3:c.2247C>T, NM_020800.2:c.2247C>T, NM_001190241.2:c.1836C>T, NM_001190241.1:c.1836C>T, NM_001190242.2:c.1836C>T, NM_001190242.1:c.1836C>T, NR_148403.1:n.4758C>T, NR_148402.1:n.4491C>T, NR_148401.1:n.2955C>T

Select item 14871086012.

rs1487108601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160366082 (GRCh38)
3:160083870 (GRCh37)
Canonical SPDI:: NC_000003.12:160366081:T:C
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160366082T>C, NC_000003.11:g.160083870T>C, NG_022932.2:g.38143A>G, NG_022932.1:g.38451A>G, NM_020800.3:c.510A>G, NM_020800.2:c.510A>G, NM_001190241.2:c.99A>G, NM_001190241.1:c.99A>G, NM_001190242.2:c.99A>G, NM_001190242.1:c.99A>G, NR_148403.1:n.3021A>G, NR_148402.1:n.2754A>G, NR_148401.1:n.1218A>G

Select item 14822920103.

rs1482292010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:160258587 (GRCh38)
3:159976375 (GRCh37)
Canonical SPDI:: NC_000003.12:160258586:T:G
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160258587T>G, NC_000003.11:g.159976375T>G, NG_022932.2:g.145638A>C, NG_022932.1:g.145946A>C, NM_020800.3:c.2272A>C, NM_020800.2:c.2272A>C, NM_001190241.2:c.1861A>C, NM_001190241.1:c.1861A>C, NM_001190242.2:c.1861A>C, NM_001190242.1:c.1861A>C, NR_148403.1:n.4783A>C, NR_148402.1:n.4516A>C, NR_148401.1:n.2980A>C, NP_065851.1:p.Thr758Pro, NP_001177170.1:p.Thr621Pro, NP_001177171.1:p.Thr621Pro

Select item 14820885944.

rs1482088594 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:160319774 (GRCh38)
3:160037562 (GRCh37)
Canonical SPDI:: NC_000003.12:160319773:TTTT:TTT
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160319777del, NC_000003.11:g.160037565del, NG_022932.2:g.84451del, NG_022932.1:g.84759del, NM_020800.3:c.943del, NM_020800.2:c.943del, NM_001190241.2:c.532del, NM_001190241.1:c.532del, NM_001190242.2:c.532del, NM_001190242.1:c.532del, NR_148403.1:n.3454del, NR_148402.1:n.3187del, NR_148401.1:n.1651del, NP_065851.1:p.Arg315fs, NP_001177170.1:p.Arg178fs, NP_001177171.1:p.Arg178fs

Select item 14773412825.

rs1477341282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160258540 (GRCh38)
3:159976328 (GRCh37)
Canonical SPDI:: NC_000003.12:160258539:T:C
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160258540T>C, NC_000003.11:g.159976328T>C, NG_022932.2:g.145685A>G, NG_022932.1:g.145993A>G, NM_020800.3:c.2319A>G, NM_020800.2:c.2319A>G, NM_001190241.2:c.1908A>G, NM_001190241.1:c.1908A>G, NM_001190242.2:c.1908A>G, NM_001190242.1:c.1908A>G, NR_148403.1:n.4830A>G, NR_148402.1:n.4563A>G, NR_148401.1:n.3027A>G, NP_065851.1:p.Ile773Met, NP_001177170.1:p.Ile636Met, NP_001177171.1:p.Ile636Met

Select item 14742876326.

rs1474287632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160307698 (GRCh38)
3:160025486 (GRCh37)
Canonical SPDI:: NC_000003.12:160307697:T:C
Gene:: IFT80 (Varview), TRIM59-IFT80 (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=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160307698T>C, NC_000003.11:g.160025486T>C, NG_022932.2:g.96527A>G, NG_022932.1:g.96835A>G, NM_020800.3:c.1041A>G, NM_020800.2:c.1041A>G, NM_001190241.2:c.630A>G, NM_001190241.1:c.630A>G, NM_001190242.2:c.630A>G, NM_001190242.1:c.630A>G, NR_148403.1:n.3552A>G, NR_148402.1:n.3285A>G, NR_148401.1:n.1749A>G

Select item 14734445937.

rs1473444593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:160282610 (GRCh38)
3:160000398 (GRCh37)
Canonical SPDI:: NC_000003.12:160282609:C:T
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000003.12:g.160282610C>T, NC_000003.11:g.160000398C>T, NG_022932.2:g.121615G>A, NG_022932.1:g.121923G>A, NM_020800.3:c.1384G>A, NM_020800.2:c.1384G>A, NM_001190241.2:c.973G>A, NM_001190241.1:c.973G>A, NM_001190242.2:c.973G>A, NM_001190242.1:c.973G>A, NR_148403.1:n.3895G>A, NR_148402.1:n.3628G>A, NR_148401.1:n.2092G>A, NP_065851.1:p.Glu462Lys, NP_001177170.1:p.Glu325Lys, NP_001177171.1:p.Glu325Lys

Select item 14730877008.

rs1473087700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160280692 (GRCh38)
3:159998480 (GRCh37)
Canonical SPDI:: NC_000003.12:160280691:T:C
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160280692T>C, NC_000003.11:g.159998480T>C, NG_022932.2:g.123533A>G, NG_022932.1:g.123841A>G, NM_020800.3:c.1639A>G, NM_020800.2:c.1639A>G, NM_001190241.2:c.1228A>G, NM_001190241.1:c.1228A>G, NM_001190242.2:c.1228A>G, NM_001190242.1:c.1228A>G, NR_148403.1:n.4150A>G, NR_148402.1:n.3883A>G, NR_148401.1:n.2347A>G, NP_065851.1:p.Lys547Glu, NP_001177170.1:p.Lys410Glu, NP_001177171.1:p.Lys410Glu

Select item 14722860189.

rs1472286018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:160366125 (GRCh38)
3:160083913 (GRCh37)
Canonical SPDI:: NC_000003.12:160366124:C:T
Gene:: IFT80 (Varview), TRIM59-IFT80 (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 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.160366125C>T, NC_000003.11:g.160083913C>T, NG_022932.2:g.38100G>A, NG_022932.1:g.38408G>A, NM_020800.3:c.467G>A, NM_020800.2:c.467G>A, NM_001190241.2:c.56G>A, NM_001190241.1:c.56G>A, NM_001190242.2:c.56G>A, NM_001190242.1:c.56G>A, NR_148403.1:n.2978G>A, NR_148402.1:n.2711G>A, NR_148401.1:n.1175G>A, NP_065851.1:p.Gly156Asp, NP_001177170.1:p.Gly19Asp, NP_001177171.1:p.Gly19Asp

Select item 147221331410.

rs1472213314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160381592 (GRCh38)
3:160099380 (GRCh37)
Canonical SPDI:: NC_000003.12:160381591:A:G
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_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_000003.12:g.160381592A>G, NC_000003.11:g.160099380A>G, NG_022932.2:g.22633T>C, NG_022932.1:g.22941T>C, NM_020800.3:c.170T>C, NM_020800.2:c.170T>C, NM_001190241.2:c.-242T>C, NM_001190241.1:c.-242T>C, NM_001190242.2:c.-242T>C, NM_001190242.1:c.-242T>C, NR_148403.1:n.2681T>C, NR_148402.1:n.2414T>C, NP_065851.1:p.Ile57Thr

Select item 147173493911.

rs1471734939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:160319858 (GRCh38)
3:160037646 (GRCh37)
Canonical SPDI:: NC_000003.12:160319857:C:T
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.160319858C>T, NC_000003.11:g.160037646C>T, NG_022932.2:g.84367G>A, NG_022932.1:g.84675G>A, NM_020800.3:c.859G>A, NM_020800.2:c.859G>A, NM_001190241.2:c.448G>A, NM_001190241.1:c.448G>A, NM_001190242.2:c.448G>A, NM_001190242.1:c.448G>A, NR_148403.1:n.3370G>A, NR_148402.1:n.3103G>A, NR_148401.1:n.1567G>A, NP_065851.1:p.Ala287Thr, NP_001177170.1:p.Ala150Thr, NP_001177171.1:p.Ala150Thr

Select item 146951045312.

rs1469510453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160268469 (GRCh38)
3:159986257 (GRCh37)
Canonical SPDI:: NC_000003.12:160268468:A:G
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.160268469A>G, NC_000003.11:g.159986257A>G, NG_022932.2:g.135756T>C, NG_022932.1:g.136064T>C, NM_020800.3:c.2167T>C, NM_020800.2:c.2167T>C, NM_001190241.2:c.1756T>C, NM_001190241.1:c.1756T>C, NM_001190242.2:c.1756T>C, NM_001190242.1:c.1756T>C, NR_148403.1:n.4678T>C, NR_148402.1:n.4411T>C, NR_148401.1:n.2875T>C

Select item 146900816813.

rs1469008168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160277660 (GRCh38)
3:159995448 (GRCh37)
Canonical SPDI:: NC_000003.12:160277659:A:G
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160277660A>G, NC_000003.11:g.159995448A>G, NG_022932.2:g.126565T>C, NG_022932.1:g.126873T>C, NM_020800.3:c.1847T>C, NM_020800.2:c.1847T>C, NM_001190241.2:c.1436T>C, NM_001190241.1:c.1436T>C, NM_001190242.2:c.1436T>C, NM_001190242.1:c.1436T>C, NR_148403.1:n.4358T>C, NR_148402.1:n.4091T>C, NR_148401.1:n.2555T>C, NP_065851.1:p.Met616Thr, NP_001177170.1:p.Met479Thr, NP_001177171.1:p.Met479Thr

Select item 146814256314.

rs1468142563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:160282594 (GRCh38)
3:160000382 (GRCh37)
Canonical SPDI:: NC_000003.12:160282593:G:A
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160282594G>A, NC_000003.11:g.160000382G>A, NG_022932.2:g.121631C>T, NG_022932.1:g.121939C>T, NM_020800.3:c.1400C>T, NM_020800.2:c.1400C>T, NM_001190241.2:c.989C>T, NM_001190241.1:c.989C>T, NM_001190242.2:c.989C>T, NM_001190242.1:c.989C>T, NR_148403.1:n.3911C>T, NR_148402.1:n.3644C>T, NR_148401.1:n.2108C>T, NP_065851.1:p.Ala467Val, NP_001177170.1:p.Ala330Val, NP_001177171.1:p.Ala330Val

Select item 146801787915.

rs1468017879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:160357529 (GRCh38)
3:160075317 (GRCh37)
Canonical SPDI:: NC_000003.12:160357528:T:A,NC_000003.12:160357528:T:C
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.160357529T>A, NC_000003.12:g.160357529T>C, NC_000003.11:g.160075317T>A, NC_000003.11:g.160075317T>C, NG_022932.2:g.46696A>T, NG_022932.2:g.46696A>G, NG_022932.1:g.47004A>T, NG_022932.1:g.47004A>G, NM_020800.3:c.599A>T, NM_020800.3:c.599A>G, NM_020800.2:c.599A>T, NM_020800.2:c.599A>G, NM_001190241.2:c.188A>T, NM_001190241.2:c.188A>G, NM_001190241.1:c.188A>T, NM_001190241.1:c.188A>G, NM_001190242.2:c.188A>T, NM_001190242.2:c.188A>G, NM_001190242.1:c.188A>T, NM_001190242.1:c.188A>G, NR_148403.1:n.3110A>T, NR_148403.1:n.3110A>G, NR_148402.1:n.2843A>T, NR_148402.1:n.2843A>G, NR_148401.1:n.1307A>T, NR_148401.1:n.1307A>G, NP_065851.1:p.Asn200Ile, NP_065851.1:p.Asn200Ser, NP_001177170.1:p.Asn63Ile, NP_001177170.1:p.Asn63Ser, NP_001177171.1:p.Asn63Ile, NP_001177171.1:p.Asn63Ser

Select item 146688403316.

rs1466884033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:160277306 (GRCh38)
3:159995094 (GRCh37)
Canonical SPDI:: NC_000003.12:160277305:C:T
Gene:: IFT80 (Varview), TRIM59-IFT80 (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_000003.12:g.160277306C>T, NC_000003.11:g.159995094C>T, NG_022932.2:g.126919G>A, NG_022932.1:g.127227G>A, NM_020800.3:c.2099G>A, NM_020800.2:c.2099G>A, NM_001190241.2:c.1688G>A, NM_001190241.1:c.1688G>A, NM_001190242.2:c.1688G>A, NM_001190242.1:c.1688G>A, NR_148403.1:n.4610G>A, NR_148402.1:n.4343G>A, NR_148401.1:n.2807G>A, NP_065851.1:p.Arg700Lys, NP_001177170.1:p.Arg563Lys, NP_001177171.1:p.Arg563Lys

Select item 146658310317.

rs1466583103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:160300995 (GRCh38)
3:160018783 (GRCh37)
Canonical SPDI:: NC_000003.12:160300994:C:A
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000003.12:g.160300995C>A, NC_000003.11:g.160018783C>A, NG_022932.2:g.103230G>T, NG_022932.1:g.103538G>T, NM_020800.3:c.1203G>T, NM_020800.2:c.1203G>T, NM_001190241.2:c.792G>T, NM_001190241.1:c.792G>T, NM_001190242.2:c.792G>T, NM_001190242.1:c.792G>T, NR_148403.1:n.3714G>T, NR_148402.1:n.3447G>T, NR_148401.1:n.1911G>T

Select item 146548543118.

rs1465485431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160277331 (GRCh38)
3:159995119 (GRCh37)
Canonical SPDI:: NC_000003.12:160277330:T:C
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.160277331T>C, NC_000003.11:g.159995119T>C, NG_022932.2:g.126894A>G, NG_022932.1:g.127202A>G, NM_020800.3:c.2074A>G, NM_020800.2:c.2074A>G, NM_001190241.2:c.1663A>G, NM_001190241.1:c.1663A>G, NM_001190242.2:c.1663A>G, NM_001190242.1:c.1663A>G, NR_148403.1:n.4585A>G, NR_148402.1:n.4318A>G, NR_148401.1:n.2782A>G, NP_065851.1:p.Asn692Asp, NP_001177170.1:p.Asn555Asp, NP_001177171.1:p.Asn555Asp

Select item 146437749419.

rs1464377494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160282489 (GRCh38)
3:160000277 (GRCh37)
Canonical SPDI:: NC_000003.12:160282488:A:G
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.160282489A>G, NC_000003.11:g.160000277A>G, NG_022932.2:g.121736T>C, NG_022932.1:g.122044T>C, NM_020800.3:c.1505T>C, NM_020800.2:c.1505T>C, NM_001190241.2:c.1094T>C, NM_001190241.1:c.1094T>C, NM_001190242.2:c.1094T>C, NM_001190242.1:c.1094T>C, NR_148403.1:n.4016T>C, NR_148402.1:n.3749T>C, NR_148401.1:n.2213T>C, NP_065851.1:p.Ile502Thr, NP_001177170.1:p.Ile365Thr, NP_001177171.1:p.Ile365Thr

Select item 146323016720.

rs1463230167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:160268495 (GRCh38)
3:159986283 (GRCh37)
Canonical SPDI:: NC_000003.12:160268494:G:A
Gene:: IFT80 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160268495G>A, NC_000003.11:g.159986283G>A, NG_022932.2:g.135730C>T, NG_022932.1:g.136038C>T, NM_020800.3:c.2141C>T, NM_020800.2:c.2141C>T, NM_001190241.2:c.1730C>T, NM_001190241.1:c.1730C>T, NM_001190242.2:c.1730C>T, NM_001190242.1:c.1730C>T, NR_148403.1:n.4652C>T, NR_148402.1:n.4385C>T, NR_148401.1:n.2849C>T, NP_065851.1:p.Thr714Ile, NP_001177170.1:p.Thr577Ile, NP_001177171.1:p.Thr577Ile

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