Linked Data
ClinVar Variation Id:
2372832
ClinVar RCV Id:
RCV004214774
dbSNP Id:
rs527591997
ExAC:
2:71058931 G / A
gnomAD v2:
2-71058931-G-A
gnomAD v3:
2-70831800-G-A
gnomAD v4:
2-70831800-G-A
COSMIC:
COSM1409218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831800G>A , CM000664.2:g.70831800G>A | GRCh38 |
| NC_000002.11:g.71058931G>A , CM000664.1:g.71058931G>A | GRCh37 |
| NC_000002.10:g.70912439G>A | NCBI36 |
| NG_033914.1:g.9024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.737C>T MANE Select | ENSP00000386378.3:p.Ala246Val | |
| ENST00000410009.4:c.737C>T | ENSP00000386378.3:p.Ala246Val | |
| NM_015717.4:c.737C>T | NP_056532.4:p.Ala246Val | |
| XM_011532874.1:c.737C>T | XP_011531176.1:p.Ala246Val | |
| XM_011532875.1:c.737C>T | XP_011531177.1:p.Ala246Val | |
| XM_011532876.1:c.737C>T | XP_011531178.1:p.Ala246Val | |
| XM_011532875.2:c.737C>T | XP_011531177.1:p.Ala246Val | |
| XM_011532876.2:c.737C>T | XP_011531178.1:p.Ala246Val | |
| NM_015717.5:c.737C>T MANE Select | NP_056532.4:p.Ala246Val |