Linked Data
ClinVar Variation Id:
1051090
ClinVar RCV Id:
RCV001359081
dbSNP Id:
rs776337063
ExAC:
5:90119297 G / A
gnomAD v2:
5-90119297-G-A
gnomAD v3:
5-90823480-G-A
gnomAD v4:
5-90823480-G-A
COSMIC:
COSM3856862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823480G>A , CM000667.2:g.90823480G>A | GRCh38 |
| NC_000005.9:g.90119297G>A , CM000667.1:g.90119297G>A | GRCh37 |
| NC_000005.8:g.90155053G>A | NCBI36 |
| NG_007083.1:g.269681G>A | |
| NG_007083.2:g.299137G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16252G>A MANE Select | ENSP00000384582.2:p.Val5418Met | |
| ENST00000425867.3:c.5206G>A | ENSP00000392618.3:p.Val1736Met | |
| ENST00000638510.1:n.3519G>A | ||
| ENST00000639431.1:c.265+147271G>A | ENSP00000491057.1:n.265+147271G>A | |
| ENST00000640061.1:n.128+1298G>A | ||
| ENST00000640407.1:c.2662G>A | ENSP00000491425.1:p.Val888Met | |
| ENST00000405460.6:c.16252G>A | ENSP00000384582.2:p.Val5418Met | |
| ENST00000425867.2:c.3235G>A | ENSP00000392618.2:p.Val1079Met | |
| NM_032119.3:c.16252G>A | NP_115495.3:p.Val5418Met | |
| NR_003149.1:n.16265G>A | ||
| XM_011543675.1:c.16249G>A | XP_011541977.1:p.Val5417Met | |
| XM_011543676.1:c.16171G>A | XP_011541978.1:p.Val5391Met | |
| XM_011543677.1:c.13555G>A | XP_011541979.1:p.Val4519Met | |
| NM_032119.4:c.16252G>A MANE Select | NP_115495.3:p.Val5418Met | |
| XM_017009963.2:c.16273G>A | XP_016865452.1:p.Val5425Met | |
| XM_017009964.2:c.16270G>A | XP_016865453.1:p.Val5424Met | |
| XM_017009965.1:c.16270G>A | XP_016865454.1:p.Val5424Met | |
| XM_017009966.2:c.16192G>A | XP_016865455.1:p.Val5398Met | |
| XM_017009967.1:c.16177G>A | XP_016865456.1:p.Val5393Met | |
| XM_017009968.2:c.16093G>A | XP_016865457.1:p.Val5365Met | |
| XM_017009969.2:c.16273G>A | XP_016865458.1:p.Val5425Met | |
| XM_017009972.1:c.9391G>A | XP_016865461.1:p.Val3131Met | |
| XM_017009973.1:c.9370G>A | XP_016865462.1:p.Val3124Met | |
| NR_003149.2:n.16268G>A |