Linked Data
ClinVar Variation Id:
514557
ClinVar RCV Id:
RCV000614597
dbSNP Id:
rs755452769
ExAC:
9:72003183 G / A
gnomAD v2:
9-72003183-G-A
gnomAD v3:
9-69388267-G-A
gnomAD v4:
9-69388267-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69388267G>A , CM000671.2:g.69388267G>A | GRCh38 |
| NC_000009.11:g.72003183G>A , CM000671.1:g.72003183G>A | GRCh37 |
| NC_000009.10:g.71193003G>A | NCBI36 |
| NG_052888.1:g.68696G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303068.14:c.1425G>A MANE Select | ENSP00000304435.8:p.Pro475= | |
| ENST00000303068.13:c.1425G>A | ENSP00000304435.8:p.Pro475= | |
| ENST00000377216.4:c.*643G>A | ENSP00000366422.4:n.*643G>A | |
| ENST00000455972.6:c.966G>A | ENSP00000395675.1:p.Pro322= | |
| ENST00000469179.2:n.1884G>A | ||
| ENST00000643727.1:n.1013G>A | ||
| ENST00000645123.1:n.4418G>A | ||
| ENST00000645516.1:n.3007G>A | ||
| ENST00000257515.12:c.966G>A | ENSP00000257515.8:p.Pro322= | |
| ENST00000303068.11:c.471G>A | ENSP00000304435.7:p.Pro157= | |
| ENST00000377216.3:c.327G>A | ENSP00000366422.3:p.Pro109= | |
| ENST00000455972.5:c.966G>A | ENSP00000395675.1:p.Pro322= | |
| ENST00000460871.1:n.686+2320G>A | ||
| ENST00000469179.1:n.1363G>A | ||
| NM_001127608.1:c.966G>A | NP_001121080.1:p.Pro322= | |
| NM_004816.3:c.966G>A | NP_004807.3:p.Pro322= | |
| XM_005252307.3:c.1425G>A | XP_005252364.1:p.Pro475= | |
| NM_001127608.2:c.966G>A | NP_001121080.1:p.Pro322= | |
| NM_001347995.1:c.1425G>A | NP_001334924.1:p.Pro475= | |
| NM_004816.4:c.966G>A | NP_004807.3:p.Pro322= | |
| XM_017015324.1:c.1038G>A | XP_016870813.1:p.Pro346= | |
| XM_017015325.1:c.856+2320G>A | XP_016870814.1:n.856+2320G>A | |
| XM_024447718.1:c.966G>A | XP_024303486.1:p.Pro322= | |
| XR_001746421.1:n.2806G>A | ||
| NM_001127608.3:c.966G>A | NP_001121080.1:p.Pro322= | |
| NM_001347995.2:c.1425G>A MANE Select | NP_001334924.1:p.Pro475= | |
| NM_004816.5:c.966G>A | NP_004807.3:p.Pro322= | |
| NR_170669.1:n.2797G>A |