Linked Data
ClinVar Variation Id:
102529
dbSNP Id:
rs62508717
gnomAD v4:
12-102843728-C-T
ERepo:
CA229351/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843728C>T , CM000674.2:g.102843728C>T | GRCh38 |
| NC_000012.11:g.103237506C>T , CM000674.1:g.103237506C>T | GRCh37 |
| NC_000012.10:g.101761636C>T | NCBI36 |
| NG_008690.1:g.78875G>A | |
| NG_008690.2:g.119683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1117G>A MANE Select | ENSP00000448059.1:p.Ala373Thr | |
| ENST00000307000.7:c.1102G>A | ENSP00000303500.2:p.Ala368Thr | |
| ENST00000549247.6:n.876G>A | ||
| ENST00000551114.2:n.779G>A | ||
| ENST00000553106.5:c.1117G>A | ENSP00000448059.1:p.Ala373Thr | |
| ENST00000635477.1:c.221G>A | ||
| ENST00000635528.1:n.632G>A | ||
| NM_000277.1:c.1117G>A | NP_000268.1:p.Ala373Thr | |
| XM_011538422.1:c.1060G>A | XP_011536724.1:p.Ala354Thr | |
| NM_000277.2:c.1117G>A | NP_000268.1:p.Ala373Thr | |
| NM_001354304.1:c.1117G>A | NP_001341233.1:p.Ala373Thr | |
| NM_000277.3:c.1117G>A MANE Select | NP_000268.1:p.Ala373Thr | |
| NM_001354304.2:c.1117G>A | NP_001341233.1:p.Ala373Thr |