Linked Data
ClinVar Variation Id:
379481
dbSNP Id:
rs978425267
gnomAD v2:
7-157202612-C-T
gnomAD v3:
7-157409918-C-T
gnomAD v4:
7-157409918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157409918C>T , CM000669.2:g.157409918C>T | GRCh38 |
| NC_000007.13:g.157202612C>T , CM000669.1:g.157202612C>T | GRCh37 |
| NC_000007.12:g.156895373C>T | NCBI36 |
| NG_032573.1:g.77903C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.815C>T MANE Select | ENSP00000262177.4:p.Ala272Val | |
| ENST00000262177.8:c.815C>T | ENSP00000262177.4:p.Ala272Val | |
| ENST00000443280.5:c.470C>T | ENSP00000396267.1:p.Ala157Val | |
| ENST00000459889.5:c.815C>T | ENSP00000488263.1:p.Ala272Val | |
| ENST00000465908.5:n.611C>T | ||
| ENST00000634080.1:c.815C>T | ENSP00000488740.1:p.Ala272Val | |
| NM_058246.3:c.815C>T | NP_490647.1:p.Ala272Val | |
| XM_005249515.2:c.815C>T | XP_005249572.1:p.Ala272Val | |
| XM_005249516.2:c.815C>T | XP_005249573.1:p.Ala272Val | |
| XM_006715823.1:c.692-6098C>T | XP_006715886.1:n.692-6098C>T | |
| XM_011515704.1:c.815C>T | XP_011514006.1:p.Ala272Val | |
| NM_001363676.1:c.470C>T | NP_001350605.1:p.Ala157Val | |
| XM_005249515.3:c.815C>T | XP_005249572.1:p.Ala272Val | |
| XM_006715823.2:c.692-6098C>T | XP_006715886.1:n.692-6098C>T | |
| NM_058246.4:c.815C>T MANE Select | NP_490647.1:p.Ala272Val |