Linked Data
ClinVar Variation Id:
6380
ClinVar RCV Id:
RCV000006752
dbSNP Id:
rs121908900
ExAC:
6:112390751 G / A
gnomAD v2:
6-112390751-G-A
gnomAD v4:
6-112069548-G-A
PubMed:
PMID:10471507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069548G>A , CM000668.2:g.112069548G>A | GRCh38 |
| NC_000006.11:g.112390751G>A , CM000668.1:g.112390751G>A | GRCh37 |
| NC_000006.10:g.112497444G>A | NCBI36 |
| NG_011748.1:g.20474G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368666.7:c.993G>A MANE Select | ENSP00000357655.4:p.Trp331Ter | |
| ENST00000639360.1:c.894G>A | ENSP00000491774.1:p.Trp298Ter | |
| ENST00000230529.9:c.993G>A | ENSP00000230529.5:p.Trp331Ter | |
| ENST00000361714.5:c.993G>A | ENSP00000354734.2:p.Trp331Ter | |
| ENST00000368663.4:c.*299G>A | ENSP00000357652.4:n.*299G>A | |
| ENST00000368664.7:c.*397G>A | ENSP00000357653.3:n.*397G>A | |
| ENST00000368666.6:c.1047G>A | ENSP00000357655.3:p.Trp349Ter | |
| ENST00000409166.5:c.321G>A | ENSP00000386467.1:p.Trp107Ter | |
| ENST00000454589.5:c.*397G>A | ENSP00000395928.1:n.*397G>A | |
| ENST00000604763.5:c.993G>A | ENSP00000473777.1:p.Trp331Ter | |
| ENST00000613648.1:n.828G>A | ||
| ENST00000620524.3:n.924G>A | ||
| NM_003880.3:c.993G>A | NP_003871.1:p.Trp331Ter | |
| NM_198239.1:c.1047G>A | NP_937882.1:p.Trp349Ter | |
| NR_125353.1:n.1247G>A | ||
| NR_125354.1:n.1167G>A | ||
| XM_011536220.1:c.993G>A | XP_011534522.1:p.Trp331Ter | |
| XM_011536221.1:c.*397G>A | XP_011534523.1:n.*397G>A | |
| XM_011536223.1:c.411G>A | XP_011534525.1:p.Trp137Ter | |
| XM_011536223.3:c.411G>A | XP_011534525.1:p.Trp137Ter | |
| XR_001743705.1:n.1595G>A | ||
| NM_003880.4:c.993G>A | NP_003871.1:p.Trp331Ter | |
| NM_198239.2:c.993G>A MANE Select | NP_937882.2:p.Trp331Ter | |
| NR_125353.2:n.1311G>A | ||
| NR_125354.3:n.1138G>A |