Linked Data
ClinVar Variation Id:
3867
dbSNP Id:
rs121907987
ExAC:
1:120286529 G / A
gnomAD v2:
1-120286529-G-A
gnomAD v3:
1-119743906-G-A
gnomAD v4:
1-119743906-G-A
PubMed:
PMID:11055895
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119743906G>A , CM000663.2:g.119743906G>A | GRCh38 |
| NC_000001.10:g.120286529G>A , CM000663.1:g.120286529G>A | GRCh37 |
| NC_000001.9:g.120088052G>A | NCBI36 |
| NG_009188.1:g.37111G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.1487G>A | ENSP00000358417.5:p.Arg496His | |
| ENST00000641023.2:c.1468G>A MANE Select | ENSP00000493175.1:p.Val490Met | |
| ENST00000641074.1:c.*47G>A | ENSP00000493446.1:n.*47G>A | |
| ENST00000641115.1:c.1204G>A | ENSP00000493264.1:p.Val402Met | |
| ENST00000641213.1:c.*1121G>A | ENSP00000493079.1:n.*1121G>A | |
| ENST00000641314.1:n.1453G>A | ||
| ENST00000641375.1:c.*1304G>A | ENSP00000493089.1:n.*1304G>A | |
| ENST00000641597.1:c.1468G>A | ENSP00000493382.1:p.Val490Met | |
| ENST00000641756.1:c.*1212G>A | ENSP00000493147.1:n.*1212G>A | |
| ENST00000641811.1:c.722G>A | ||
| ENST00000641891.1:c.*1294G>A | ENSP00000493288.1:n.*1294G>A | |
| ENST00000641927.1:n.1408G>A | ||
| ENST00000641947.1:c.1447G>A | ENSP00000492994.1:p.Val483Met | |
| ENST00000642021.1:n.2499G>A | ||
| ENST00000369407.3:c.1366G>A | ENSP00000358415.3:p.Val456Met | |
| ENST00000369409.8:c.1468G>A | ENSP00000358417.4:p.Val490Met | |
| ENST00000482968.1:n.1447G>A | ||
| NM_006623.3:c.1468G>A | NP_006614.2:p.Val490Met | |
| XM_011541226.1:c.1690G>A | XP_011539528.1:p.Val564Met | |
| XM_011541227.1:c.1612G>A | XP_011539529.1:p.Val538Met | |
| XM_011541228.1:c.1579G>A | XP_011539530.1:p.Val527Met | |
| XM_011541229.1:c.1405G>A | XP_011539531.1:p.Val469Met | |
| XM_011541230.1:c.1183G>A | XP_011539532.1:p.Val395Met | |
| XM_011541231.1:c.1174G>A | XP_011539533.1:p.Val392Met | |
| XM_011541226.2:c.1690G>A | XP_011539528.1:p.Val564Met | |
| XM_011541227.2:c.1612G>A | XP_011539529.1:p.Val538Met | |
| XM_011541228.2:c.1579G>A | XP_011539530.1:p.Val527Met | |
| XM_011541231.2:c.1174G>A | XP_011539533.1:p.Val392Met | |
| XM_024446338.1:c.1579G>A | XP_024302106.1:p.Val527Met | |
| NM_006623.4:c.1468G>A MANE Select | NP_006614.2:p.Val490Met |