Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039379T= , CM000663.2:g.197039379T= | GRCh38 |
| NC_000001.10:g.197008509T= , CM000663.1:g.197008509T= | GRCh37 |
| NC_000001.9:g.195275132T= | NCBI36 |
| NG_012065.1:g.32889A= , LRG_550:g.32889A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.1985A= MANE Select | ENSP00000356382.2:p.Ter662= | |
| ENST00000649282.1:c.740A= | ENSP00000497116.1:p.Ter247= | |
| ENST00000367412.1:c.1985A= | ENSP00000356382.1:p.Ter662= | |
| NM_001994.2:c.1985A= , LRG_550t1:c.1985A= | NP_001985.2:p.Ter662= | |
| XM_011509283.2:c.*920A= | XP_011507585.1:n.*920A= | |
| XM_011509284.2:c.*920A= | XP_011507586.1:n.*920A= | |
| XM_011509286.2:c.*920A= | XP_011507588.1:n.*920A= | |
| NM_001994.3:c.1985A= MANE Select | NP_001985.2:p.Ter662= |