Linked Data
ClinVar Variation Id:
1481721
dbSNP Id:
rs1169310686
gnomAD v2:
12-103238166-T-G
gnomAD v4:
12-102844388-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844388T>G , CM000674.2:g.102844388T>G | GRCh38 |
| NC_000012.11:g.103238166T>G , CM000674.1:g.103238166T>G | GRCh37 |
| NC_000012.10:g.101762296T>G | NCBI36 |
| NG_008690.1:g.78215A>C | |
| NG_008690.2:g.119023A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1013A>C MANE Select | ENSP00000448059.1:p.Asp338Ala | |
| ENST00000307000.7:c.998A>C | ENSP00000303500.2:p.Asp333Ala | |
| ENST00000549247.6:n.772A>C | ||
| ENST00000551114.2:n.675A>C | ||
| ENST00000553106.5:c.1013A>C | ENSP00000448059.1:p.Asp338Ala | |
| ENST00000635477.1:c.117A>C | ||
| ENST00000635528.1:n.528A>C | ||
| NM_000277.1:c.1013A>C | NP_000268.1:p.Asp338Ala | |
| XM_011538422.1:c.956A>C | XP_011536724.1:p.Asp319Ala | |
| NM_000277.2:c.1013A>C | NP_000268.1:p.Asp338Ala | |
| NM_001354304.1:c.1013A>C | NP_001341233.1:p.Asp338Ala | |
| NM_000277.3:c.1013A>C MANE Select | NP_000268.1:p.Asp338Ala | |
| NM_001354304.2:c.1013A>C | NP_001341233.1:p.Asp338Ala |