Linked Data
ClinVar Variation Id:
161689
ClinVar RCV Id:
RCV000149225
dbSNP Id:
rs193921058
gnomAD v3:
13-109120425-T-G
gnomAD v4:
13-109120425-T-G
COSMIC:
COSM1179082
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.109120425T>G , CM000675.2:g.109120425T>G | GRCh38 |
| NC_000013.10:g.109772773T>G , CM000675.1:g.109772773T>G | GRCh37 |
| NC_000013.9:g.108570774T>G | NCBI36 |
| NG_053147.1:g.629697T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356711.7:c.3428T>G | ENSP00000349145.2:p.Leu1143Trp | |
| ENST00000457511.7:c.3494T>G MANE Select | ENSP00000401633.3:p.Leu1165Trp | |
| ENST00000356711.6:c.3428T>G | ENSP00000349145.2:p.Leu1143Trp | |
| ENST00000357550.3:c.3428T>G | ENSP00000350160.2:p.Leu1143Trp | |
| ENST00000457511.6:c.3494T>G | ENSP00000401633.3:p.Leu1165Trp | |
| NM_001198950.1:c.3494T>G | NP_001185879.1:p.Leu1165Trp | |
| NM_015011.1:c.3428T>G | NP_055826.1:p.Leu1143Trp | |
| XM_011521062.1:c.3428T>G | XP_011519364.1:p.Leu1143Trp | |
| NM_001198950.2:c.3494T>G | NP_001185879.1:p.Leu1165Trp | |
| NM_015011.2:c.3428T>G | NP_055826.1:p.Leu1143Trp | |
| NM_001198950.3:c.3494T>G MANE Select | NP_001185879.1:p.Leu1165Trp | |
| NM_015011.3:c.3428T>G | NP_055826.1:p.Leu1143Trp |