Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112648185A= , CM000663.2:g.112648185A= | GRCh38 |
| NC_000001.10:g.113190807A= , CM000663.1:g.113190807A= | GRCh37 |
| NC_000001.9:g.112992330A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263168.4:c.103+912A= MANE Select | ENSP00000263168.3:n.103+912A= | |
| ENST00000263168.3:c.103+912A= | ENSP00000263168.3:n.103+912A= | |
| ENST00000476936.5:n.129+912A= | ||
| ENST00000485542.5:n.143+912A= | ||
| ENST00000498626.1:n.156+912A= | ||
| NM_006135.2:c.103+912A= | NP_006126.1:n.103+912A= | |
| XM_011542225.1:c.103+912A= | XP_011540527.1:n.103+912A= | |
| XM_011542225.3:c.103+912A= | XP_011540527.1:n.103+912A= | |
| XM_017002424.2:c.103+912A= | XP_016857913.1:n.103+912A= | |
| NM_006135.3:c.103+912A= MANE Select | NP_006126.1:n.103+912A= |