Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866809T= , CM000679.2:g.40866809T= | GRCh38 |
| NC_000017.10:g.39023061T= , CM000679.1:g.39023061T= | GRCh37 |
| NC_000017.9:g.36276587T= | NCBI36 |
| NG_008077.1:g.5402A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.378A= MANE Select | ENSP00000251643.4:p.Lys126= | |
| ENST00000647902.1:c.270A= | ENSP00000497770.1:p.Lys90= | |
| ENST00000251643.4:c.378A= | ENSP00000251643.4:p.Lys126= | |
| NM_000223.3:c.378A= | NP_000214.1:p.Lys126= | |
| XR_934754.1:n.1500+15949T= | ||
| XR_934754.2:n.2008+15949T= | ||
| NM_000223.4:c.378A= MANE Select | NP_000214.1:p.Lys126= |