Linked Data
ClinVar Variation Id:
13517
ClinVar RCV Id:
RCV000014472
dbSNP Id:
rs121918039
PubMed:
PMID:8650545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88043277G>A , CM000666.2:g.88043277G>A | GRCh38 |
| NC_000004.11:g.88964429G>A , CM000666.1:g.88964429G>A | GRCh37 |
| NC_000004.10:g.89183453G>A | NCBI36 |
| NG_008604.1:g.40610G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237596.7:c.1139G>A MANE Select | ENSP00000237596.2:p.Trp380Ter | |
| ENST00000237596.6:c.1139G>A | ENSP00000237596.2:p.Trp380Ter | |
| ENST00000506367.1:n.586G>A | ||
| ENST00000508588.5:c.-379G>A | ENSP00000427131.1:n.-379G>A | |
| NM_000297.3:c.1139G>A | NP_000288.1:p.Trp380Ter | |
| XM_011532028.1:c.1095-3365G>A | XP_011530330.1:n.1095-3365G>A | |
| XM_011532029.1:c.419G>A | XP_011530331.1:p.Trp140Ter | |
| XM_011532030.1:c.299G>A | XP_011530332.1:p.Trp100Ter | |
| XR_244632.2:n.1234G>A | ||
| NR_156488.1:n.1226G>A | ||
| XM_011532028.2:c.1095-3365G>A | XP_011530330.1:n.1095-3365G>A | |
| XM_011532030.2:c.299G>A | XP_011530332.1:p.Trp100Ter | |
| NM_000297.4:c.1139G>A MANE Select | NP_000288.1:p.Trp380Ter | |
| NR_156488.2:n.1238G>A |