Linked Data
ClinVar Variation Id:
102897
dbSNP Id:
rs62642935
gnomAD v2:
12-103240716-G-T
gnomAD v4:
12-102846938-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846938G>T , CM000674.2:g.102846938G>T | GRCh38 |
| NC_000012.11:g.103240716G>T , CM000674.1:g.103240716G>T | GRCh37 |
| NC_000012.10:g.101764846G>T | NCBI36 |
| NG_008690.1:g.75665C>A | |
| NG_008690.2:g.116473C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.926C>A MANE Select | ENSP00000448059.1:p.Ala309Asp | |
| ENST00000307000.7:c.911C>A | ENSP00000303500.2:p.Ala304Asp | |
| ENST00000549247.6:n.685C>A | ||
| ENST00000551114.2:n.588C>A | ||
| ENST00000553106.5:c.926C>A | ENSP00000448059.1:p.Ala309Asp | |
| ENST00000635477.1:c.74-2507C>A | ||
| ENST00000635528.1:n.441C>A | ||
| NM_000277.1:c.926C>A | NP_000268.1:p.Ala309Asp | |
| XM_011538422.1:c.913-2507C>A | XP_011536724.1:n.913-2507C>A | |
| NM_000277.2:c.926C>A | NP_000268.1:p.Ala309Asp | |
| NM_001354304.1:c.926C>A | NP_001341233.1:p.Ala309Asp | |
| NM_000277.3:c.926C>A MANE Select | NP_000268.1:p.Ala309Asp | |
| NM_001354304.2:c.926C>A | NP_001341233.1:p.Ala309Asp |