Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22142888A= , CM000663.2:g.22142888A= | GRCh38 |
| NC_000001.10:g.22469381A= , CM000663.1:g.22469381A= | GRCh37 |
| NC_000001.9:g.22341968A= | NCBI36 |
| NG_008974.1:g.5139T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030761.5:c.35T= MANE Select | NP_110388.2:p.Leu12= |
| ENST00000290167.11:c.35T= MANE Select | ENSP00000290167.5:p.Leu12= |
| NM_030761.4:c.35T= | NP_110388.2:p.Leu12= |
| ENST00000290167.10:c.35T= | ENSP00000290167.5:p.Leu12= |
| ENST00000441048.1:c.-89+844T= | ENSP00000388925.1:n.-89+844T= |
| XM_011541598.1:c.-89+844T= | XP_011539900.1:n.-89+844T= |
| XM_011541598.2:c.-89+844T= | XP_011539900.1:n.-89+844T= |
| XR_947049.1:n.66A= | |
| XR_947050.1:n.53+1883A= | |
| XR_947053.1:n.66A= | |
| XR_947054.1:n.66A= | |
| XR_947055.1:n.66A= |