Linked Data
ClinVar Variation Id:
343468
ClinVar RCV Id:
RCV000379889
dbSNP Id:
rs141340198
ExAC:
3:136002738 T / C
gnomAD v2:
3-136002738-T-C
gnomAD v3:
3-136283896-T-C
gnomAD v4:
3-136283896-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136283896T>C , CM000665.2:g.136283896T>C | GRCh38 |
| NC_000003.11:g.136002738T>C , CM000665.1:g.136002738T>C | GRCh37 |
| NC_000003.10:g.137485428T>C | NCBI36 |
| NG_008939.1:g.38572T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.603T>C MANE Select | ENSP00000251654.4:p.Ala201= | |
| ENST00000251654.8:c.603T>C | ENSP00000251654.4:p.Ala201= | |
| ENST00000459873.1:c.354T>C | ENSP00000419293.1:p.Ala118= | |
| ENST00000462542.5:c.470T>C | ||
| ENST00000462637.5:c.534T>C | ENSP00000420391.1:p.Ala178= | |
| ENST00000465176.5:n.565T>C | ||
| ENST00000466072.5:c.603T>C | ENSP00000420158.1:p.Ala201= | |
| ENST00000468777.5:c.696T>C | ENSP00000419129.1:p.Ala232= | |
| ENST00000469217.5:c.663T>C | ENSP00000419027.1:p.Ala221= | |
| ENST00000471595.5:c.603T>C | ENSP00000417549.1:p.Ala201= | |
| ENST00000473073.1:n.560T>C | ||
| ENST00000474833.5:n.228T>C | ||
| ENST00000475214.5:n.517T>C | ||
| ENST00000478469.5:c.603T>C | ENSP00000420759.1:p.Ala201= | |
| ENST00000482086.5:c.255T>C | ENSP00000417253.1:p.Ala85= | |
| ENST00000483687.5:c.546T>C | ENSP00000420639.1:p.Ala182= | |
| ENST00000484181.5:c.603T>C | ENSP00000417937.1:p.Ala201= | |
| ENST00000490504.5:c.432T>C | ENSP00000418307.1:p.Ala144= | |
| NM_000532.4:c.603T>C | NP_000523.2:p.Ala201= | |
| NM_001178014.1:c.663T>C | NP_001171485.1:p.Ala221= | |
| XM_011512873.1:c.603T>C | XP_011511175.1:p.Ala201= | |
| XM_011512873.2:c.603T>C | XP_011511175.1:p.Ala201= | |
| NM_000532.5:c.603T>C MANE Select | NP_000523.2:p.Ala201= | |
| NM_001178014.2:c.663T>C | NP_001171485.1:p.Ala221= |