Linked Data
ClinVar Variation Id:
14159
ClinVar RCV Id:
RCV000015222
dbSNP Id:
rs121913613
gnomAD v3:
1-43349267-G-A
gnomAD v4:
1-43349267-G-A
PubMed:
PMID:10971406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43349267G>A , CM000663.2:g.43349267G>A | GRCh38 |
| NC_000001.10:g.43814938G>A , CM000663.1:g.43814938G>A | GRCh37 |
| NC_000001.9:g.43587525G>A | NCBI36 |
| NG_007525.1:g.16464G>A , LRG_510:g.16464G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372470.9:c.1473G>A MANE Select | ENSP00000361548.3:p.Trp491Ter | |
| ENST00000413998.7:c.1452G>A | ENSP00000414004.3:p.Trp484Ter | |
| ENST00000638732.1:n.1473G>A | ||
| ENST00000643351.1:c.5G>A | ||
| ENST00000372470.7:c.1473G>A | ENSP00000361548.3:p.Trp491Ter | |
| ENST00000413998.6:c.1473G>A | ENSP00000414004.2:p.Trp491Ter | |
| ENST00000612993.1:c.1473G>A | ENSP00000480273.1:p.Trp491Ter | |
| NM_005373.2:c.1473G>A , LRG_510t1:c.1473G>A | NP_005364.1:p.Trp491Ter | |
| XM_011541478.1:c.1452G>A | XP_011539780.1:p.Trp484Ter | |
| XM_017001320.1:c.1644G>A | XP_016856809.1:p.Trp548Ter | |
| NM_005373.3:c.1473G>A MANE Select | NP_005364.1:p.Trp491Ter |