Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445696A= , CM000663.2:g.15445696A= | GRCh38 |
| NC_000001.10:g.15772191A= , CM000663.1:g.15772191A= | GRCh37 |
| NC_000001.9:g.15644778A= | NCBI36 |
| NG_009253.1:g.12254A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.739A= MANE Select | ENSP00000365116.4:p.Lys247= | |
| ENST00000375943.6:c.*193A= | ENSP00000365110.2:n.*193A= | |
| ENST00000375949.4:c.739A= | ENSP00000365116.4:p.Lys247= | |
| ENST00000483406.1:n.503A= | ||
| NM_007272.2:c.739A= | NP_009203.2:p.Lys247= | |
| XM_011540550.1:c.593A= | XP_011538852.1:p.Gln198= | |
| NM_007272.3:c.739A= MANE Select | NP_009203.2:p.Lys247= |