Linked Data
ClinVar Variation Id:
309724
ClinVar RCV Id:
RCV000363575
dbSNP Id:
rs764298213
ExAC:
12:53701464 G / C
gnomAD v2:
12-53701464-G-C
gnomAD v4:
12-53307680-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307680G>C , CM000674.2:g.53307680G>C | GRCh38 |
| NC_000012.11:g.53701464G>C , CM000674.1:g.53701464G>C | GRCh37 |
| NC_000012.10:g.51987731G>C | NCBI36 |
| NG_016775.1:g.18949C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1450C>G MANE Select | ENSP00000209873.4:p.Leu484Val | |
| ENST00000546562.6:n.2514C>G | ||
| ENST00000547238.6:n.2086C>G | ||
| ENST00000547520.6:n.1566C>G | ||
| ENST00000547757.2:c.*368C>G | ENSP00000448020.2:n.*368C>G | |
| ENST00000548880.2:n.1900C>G | ||
| ENST00000548931.6:c.885C>G | ENSP00000457518.1:p.Arg295= | |
| ENST00000549450.6:n.1384C>G | ||
| ENST00000552161.6:n.2528C>G | ||
| ENST00000672797.1:n.1939C>G | ||
| ENST00000209873.8:c.1450C>G | ENSP00000209873.4:p.Leu484Val | |
| ENST00000394384.7:c.1351C>G | ENSP00000377908.3:p.Leu451Val | |
| ENST00000548931.5:c.885C>G | ENSP00000457518.1:p.Arg295= | |
| ENST00000550286.5:c.1078C>G | ENSP00000446885.1:p.Leu360Val | |
| ENST00000552876.5:n.1793C>G | ||
| NM_001173466.1:c.1351C>G | NP_001166937.1:p.Leu451Val | |
| NM_015665.5:c.1450C>G | NP_056480.1:p.Leu484Val | |
| XM_006719617.2:c.1465C>G | XP_006719680.1:p.Leu489Val | |
| XM_011538777.1:c.1507C>G | XP_011537079.1:p.Leu503Val | |
| XM_011538778.1:c.1492C>G | XP_011537080.1:p.Leu498Val | |
| XM_011538779.1:c.1408C>G | XP_011537081.1:p.Leu470Val | |
| XM_011538780.1:c.1393C>G | XP_011537082.1:p.Leu465Val | |
| XM_011538781.1:c.841C>G | XP_011537083.1:p.Leu281Val | |
| XM_011538778.2:c.1492C>G | XP_011537080.1:p.Leu498Val | |
| XM_011538780.2:c.1393C>G | XP_011537082.1:p.Leu465Val | |
| XR_001748875.2:n.1507C>G | ||
| NM_015665.6:c.1450C>G MANE Select | NP_056480.1:p.Leu484Val | |
| NM_001173466.2:c.1351C>G | NP_001166937.1:p.Leu451Val |