Linked Data
ClinVar Variation Id:
625291
ClinVar RCV Id:
RCV000796569
dbSNP Id:
rs1592945394
gnomAD v4:
12-102840411-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840411T>A , CM000674.2:g.102840411T>A | GRCh38 |
| NC_000012.11:g.103234189T>A , CM000674.1:g.103234189T>A | GRCh37 |
| NC_000012.10:g.101758319T>A | NCBI36 |
| NG_008690.1:g.82192A>T | |
| NG_008690.2:g.123000A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1304A>T MANE Select | ENSP00000448059.1:p.Asp435Val | |
| ENST00000307000.7:c.1289A>T | ENSP00000303500.2:p.Asp430Val | |
| ENST00000551114.2:n.966A>T | ||
| ENST00000553106.5:c.1304A>T | ENSP00000448059.1:p.Asp435Val | |
| ENST00000635477.1:c.408A>T | ||
| ENST00000635528.1:n.819A>T | ||
| NM_000277.1:c.1304A>T | NP_000268.1:p.Asp435Val | |
| XM_011538422.1:c.1247A>T | XP_011536724.1:p.Asp416Val | |
| NM_000277.2:c.1304A>T | NP_000268.1:p.Asp435Val | |
| NM_001354304.1:c.1304A>T | NP_001341233.1:p.Asp435Val | |
| NM_000277.3:c.1304A>T MANE Select | NP_000268.1:p.Asp435Val | |
| NM_001354304.2:c.1304A>T | NP_001341233.1:p.Asp435Val |