Linked Data
ClinVar Variation Id:
579
dbSNP Id:
rs62514959
gnomAD v2:
12-103238202-C-T
gnomAD v4:
12-102844424-C-T
PubMed:
PMID:2816939
ERepo:
CA229887/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844424C>T , CM000674.2:g.102844424C>T | GRCh38 |
| NC_000012.11:g.103238202C>T , CM000674.1:g.103238202C>T | GRCh37 |
| NC_000012.10:g.101762332C>T | NCBI36 |
| NG_008690.1:g.78179G>A | |
| NG_008690.2:g.118987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.977G>A MANE Select | ENSP00000448059.1:p.Trp326Ter | |
| ENST00000307000.7:c.962G>A | ENSP00000303500.2:p.Trp321Ter | |
| ENST00000549247.6:n.736G>A | ||
| ENST00000551114.2:n.639G>A | ||
| ENST00000553106.5:c.977G>A | ENSP00000448059.1:p.Trp326Ter | |
| ENST00000635477.1:c.81G>A | ||
| ENST00000635528.1:n.492G>A | ||
| NM_000277.1:c.977G>A | NP_000268.1:p.Trp326Ter | |
| XM_011538422.1:c.920G>A | XP_011536724.1:p.Trp307Ter | |
| NM_000277.2:c.977G>A | NP_000268.1:p.Trp326Ter | |
| NM_001354304.1:c.977G>A | NP_001341233.1:p.Trp326Ter | |
| NM_000277.3:c.977G>A MANE Select | NP_000268.1:p.Trp326Ter | |
| NM_001354304.2:c.977G>A | NP_001341233.1:p.Trp326Ter |