Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39581139T= , CM000677.2:g.39581139T= | GRCh38 |
| NC_000015.9:g.39873340T= , CM000677.1:g.39873340T= | GRCh37 |
| NC_000015.8:g.37660632T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260356.6:c.-119T= MANE Select | ENSP00000260356.5:n.-119T= | |
| ENST00000260356.5:c.-119T= | ENSP00000260356.5:n.-119T= | |
| ENST00000397591.2:c.-240T= | ENSP00000380720.2:n.-240T= | |
| NM_003246.2:c.-119T= | NP_003237.2:n.-119T= | |
| NM_003246.3:c.-119T= | NP_003237.2:n.-119T= | |
| XM_011521970.1:c.-240T= | XP_011520272.1:n.-240T= | |
| XM_011521971.1:c.-119T= | XP_011520273.1:n.-119T= | |
| XR_931897.1:n.57T= | ||
| XM_011521971.2:c.-119T= | XP_011520273.1:n.-119T= | |
| NM_003246.4:c.-119T= MANE Select | NP_003237.2:n.-119T= |