Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15930572T= , CM000663.2:g.15930572T= | GRCh38 |
| NC_000001.10:g.16257067T= , CM000663.1:g.16257067T= | GRCh37 |
| NC_000001.9:g.16129654T= | NCBI36 |
| NG_050663.1:g.87709T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438066.2:c.*5183T= | ENSP00000388021.2:n.*5183T= | |
| ENST00000375759.8:c.4332T= MANE Select | ENSP00000364912.3:p.Thr1444= | |
| ENST00000375759.7:c.4332T= | ENSP00000364912.3:p.Thr1444= | |
| NM_015001.2:c.4332T= | NP_055816.2:p.Thr1444= | |
| NM_015001.3:c.4332T= MANE Select | NP_055816.2:p.Thr1444= |