Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212887929G>C , CM000663.2:g.212887929G>C | GRCh38 |
| NC_000001.10:g.213061271G>C , CM000663.1:g.213061271G>C | GRCh37 |
| NC_000001.9:g.211127894G>C | NCBI36 |
| NG_028131.1:g.34675G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014053.4:c.1235G>C MANE Select | NP_054772.1:p.Gly412Ala |
| ENST00000366971.9:c.1235G>C MANE Select | ENSP00000355938.4:p.Gly412Ala |
| NM_014053.3:c.1235G>C | NP_054772.1:p.Gly412Ala |
| ENST00000366971.8:c.1235G>C | ENSP00000355938.4:p.Gly412Ala |
| ENST00000419102.1:c.631G>C | |
| ENST00000483790.1:n.135-560G>C | |
| XM_011509446.1:c.1197-560G>C | XP_011507748.1:n.1197-560G>C |
| XM_011509446.3:c.1197-560G>C | XP_011507748.1:n.1197-560G>C |
| XR_247024.1:n.1409G>C | |
| XR_247024.3:n.1409G>C |