Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162276832C= , CM000664.2:g.162276832C= | GRCh38 |
| NC_000002.11:g.163133342C= , CM000664.1:g.163133342C= | GRCh37 |
| NC_000002.10:g.162841588C= | NCBI36 |
| NG_011495.1:g.46698G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1756G= | ENSP00000513228.1:n.*1756G= | |
| ENST00000648433.1:c.2042G= | ENSP00000496816.1:p.Arg681= | |
| ENST00000649554.1:n.1769G= | ||
| ENST00000649979.2:c.2159G= MANE Select | ENSP00000497271.1:p.Arg720= | |
| ENST00000679938.1:c.1847G= | ENSP00000505518.1:p.Arg616= | |
| ENST00000263642.2:c.2159G= | ENSP00000263642.2:p.Arg720= | |
| NM_022168.3:c.2159G= | NP_071451.2:p.Arg720= | |
| XM_011511628.1:c.1442G= | XP_011509930.1:p.Arg481= | |
| NM_022168.4:c.2159G= MANE Select | NP_071451.2:p.Arg720= |