Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112830566T>G , CM000664.2:g.112830566T>G | GRCh38 |
| NC_000002.11:g.113588143T>G , CM000664.1:g.113588143T>G | GRCh37 |
| NC_000002.10:g.113304614T>G | NCBI36 |
| NG_008851.1:g.11214A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263341.7:c.605A>C MANE Select | ENSP00000263341.2:p.Asp202Ala | |
| ENST00000263341.6:c.605A>C | ENSP00000263341.2:p.Asp202Ala | |
| ENST00000491056.5:n.1412A>C | ||
| NM_000576.2:c.605A>C | NP_000567.1:p.Asp202Ala | |
| XM_006712496.1:c.371A>C | XP_006712559.1:p.Asp124Ala | |
| XM_017003988.2:c.512A>C | XP_016859477.1:p.Asp171Ala | |
| NM_000576.3:c.605A>C MANE Select | NP_000567.1:p.Asp202Ala |