Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845314G= , CM000681.2:g.40845314G= | GRCh38 |
| NC_000019.9:g.41351219G= , CM000681.1:g.41351219G= | GRCh37 |
| NC_000019.8:g.46043059G= | NCBI36 |
| NG_008377.1:g.10134C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.1141C= MANE Select | ENSP00000301141.4:p.Arg381= | |
| ENST00000301141.9:c.1141C= | ENSP00000301141.4:p.Arg381= | |
| ENST00000596719.5:n.992C= | ||
| ENST00000601627.1:c.119+43899G= | ||
| ENST00000610301.1:c.1141C= | ENSP00000477899.1:p.Arg381= | |
| NM_000762.5:c.1141C= | NP_000753.3:p.Arg381= | |
| NM_000762.6:c.1141C= MANE Select | NP_000753.3:p.Arg381= |