Linked Data
ClinVar Variation Id:
849961
ClinVar RCV Id:
RCV001054028
dbSNP Id:
rs762866887
ExAC:
7:83036430 C / T
gnomAD v2:
7-83036430-C-T
gnomAD v4:
7-83407114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407114C>T , CM000669.2:g.83407114C>T | GRCh38 |
| NC_000007.13:g.83036430C>T , CM000669.1:g.83036430C>T | GRCh37 |
| NC_000007.12:g.82874366C>T | NCBI36 |
| NG_021242.1:g.247050G>A | |
| NG_021242.2:g.247050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.616G>A | ENSP00000405052.1:p.Val206Ile | |
| ENST00000642232.1:c.796G>A | ENSP00000494064.1:p.Val266Ile | |
| ENST00000643230.2:c.796G>A MANE Select | ENSP00000496491.1:p.Val266Ile | |
| ENST00000643441.1:n.781G>A | ||
| ENST00000307792.7:c.796G>A | ENSP00000303212.3:p.Val266Ile | |
| ENST00000427262.5:c.616G>A | ENSP00000405052.1:p.Val206Ile | |
| NM_001178129.1:c.616G>A | NP_001171600.1:p.Val206Ile | |
| NM_012431.2:c.796G>A | NP_036563.1:p.Val266Ile | |
| XM_011516715.1:c.796G>A | XP_011515017.1:p.Val266Ile | |
| NM_012431.3:c.796G>A MANE Select | NP_036563.1:p.Val266Ile | |
| NM_001178129.2:c.616G>A | NP_001171600.1:p.Val206Ile |