Linked Data
ClinVar Variation Id:
932260
ClinVar RCV Id:
RCV001199986
dbSNP Id:
rs1874694965
gnomAD v4:
12-102843727-G-T
ERepo:
CA16020943/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843727G>T , CM000674.2:g.102843727G>T | GRCh38 |
| NC_000012.11:g.103237505G>T , CM000674.1:g.103237505G>T | GRCh37 |
| NC_000012.10:g.101761635G>T | NCBI36 |
| NG_008690.1:g.78876C>A | |
| NG_008690.2:g.119684C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1118C>A MANE Select | ENSP00000448059.1:p.Ala373Asp | |
| ENST00000307000.7:c.1103C>A | ENSP00000303500.2:p.Ala368Asp | |
| ENST00000549247.6:n.877C>A | ||
| ENST00000551114.2:n.780C>A | ||
| ENST00000553106.5:c.1118C>A | ENSP00000448059.1:p.Ala373Asp | |
| ENST00000635477.1:c.222C>A | ||
| ENST00000635528.1:n.633C>A | ||
| NM_000277.1:c.1118C>A | NP_000268.1:p.Ala373Asp | |
| XM_011538422.1:c.1061C>A | XP_011536724.1:p.Ala354Asp | |
| NM_000277.2:c.1118C>A | NP_000268.1:p.Ala373Asp | |
| NM_001354304.1:c.1118C>A | NP_001341233.1:p.Ala373Asp | |
| NM_000277.3:c.1118C>A MANE Select | NP_000268.1:p.Ala373Asp | |
| NM_001354304.2:c.1118C>A | NP_001341233.1:p.Ala373Asp |