Linked Data
ClinVar Variation Id:
102546
dbSNP Id:
rs62516102
gnomAD v4:
12-102843664-T-G
ERepo:
CA229372/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843664T>G , CM000674.2:g.102843664T>G | GRCh38 |
| NC_000012.11:g.103237442T>G , CM000674.1:g.103237442T>G | GRCh37 |
| NC_000012.10:g.101761572T>G | NCBI36 |
| NG_008690.1:g.78939A>C | |
| NG_008690.2:g.119747A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1181A>C MANE Select | ENSP00000448059.1:p.Asp394Ala | |
| ENST00000307000.7:c.1166A>C | ENSP00000303500.2:p.Asp389Ala | |
| ENST00000549247.6:n.940A>C | ||
| ENST00000551114.2:n.843A>C | ||
| ENST00000553106.5:c.1181A>C | ENSP00000448059.1:p.Asp394Ala | |
| ENST00000635477.1:c.285A>C | ||
| ENST00000635528.1:n.696A>C | ||
| NM_000277.1:c.1181A>C | NP_000268.1:p.Asp394Ala | |
| XM_011538422.1:c.1124A>C | XP_011536724.1:p.Asp375Ala | |
| NM_000277.2:c.1181A>C | NP_000268.1:p.Asp394Ala | |
| NM_001354304.1:c.1181A>C | NP_001341233.1:p.Asp394Ala | |
| NM_000277.3:c.1181A>C MANE Select | NP_000268.1:p.Asp394Ala | |
| NM_001354304.2:c.1181A>C | NP_001341233.1:p.Asp394Ala |