Linked Data
ClinVar Variation Id:
4317
ClinVar RCV Id:
RCV000004561
dbSNP Id:
rs121908304
PubMed:
PMID:2349952
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155236416C>A , CM000663.2:g.155236416C>A | GRCh38 |
| NC_000001.10:g.155206207C>A , CM000663.1:g.155206207C>A | GRCh37 |
| NC_000001.9:g.153472831C>A | NCBI36 |
| NG_009783.1:g.13282G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368373.8:c.1053G>T MANE Select | ENSP00000357357.3:p.Trp351Cys | |
| ENST00000327247.9:c.1053G>T | ENSP00000314508.5:p.Trp351Cys | |
| ENST00000368373.7:c.1053G>T | ENSP00000357357.3:p.Trp351Cys | |
| ENST00000427500.7:c.906G>T | ENSP00000402577.2:p.Trp302Cys | |
| ENST00000428024.3:c.792G>T | ENSP00000397986.2:p.Trp264Cys | |
| ENST00000478472.1:n.44G>T | ||
| ENST00000484489.5:n.340-128G>T | ||
| ENST00000491081.5:n.658G>T | ||
| ENST00000497670.5:n.676G>T | ||
| NM_000157.3:c.1053G>T | NP_000148.2:p.Trp351Cys | |
| NM_001005741.2:c.1053G>T | NP_001005741.1:p.Trp351Cys | |
| NM_001005742.2:c.1053G>T | NP_001005742.1:p.Trp351Cys | |
| NM_001171811.1:c.792G>T | NP_001165282.1:p.Trp264Cys | |
| NM_001171812.1:c.906G>T | NP_001165283.1:p.Trp302Cys | |
| XM_006711270.1:c.1053G>T | XP_006711333.1:p.Trp351Cys | |
| XM_011509407.1:c.1053G>T | XP_011507709.1:p.Trp351Cys | |
| NM_000157.4:c.1053G>T MANE Select | NP_000148.2:p.Trp351Cys | |
| NM_001005741.3:c.1053G>T | NP_001005741.1:p.Trp351Cys | |
| NM_001005742.3:c.1053G>T | NP_001005742.1:p.Trp351Cys | |
| NM_001171811.2:c.792G>T | NP_001165282.1:p.Trp264Cys | |
| NM_001171812.2:c.906G>T | NP_001165283.1:p.Trp302Cys |