Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33061802T= , CM000675.2:g.33061802T= | GRCh38 |
| NC_000013.10:g.33635939T= , CM000675.1:g.33635939T= | GRCh37 |
| NC_000013.9:g.32533939T= | NCBI36 |
| NG_011485.1:g.50369T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004795.4:c.2701+22T= MANE Select | NP_004786.2:n.2701+22T= |
| ENST00000380099.4:c.2701+22T= MANE Select | ENSP00000369442.3:n.2701+22T= |
| NM_004795.3:c.2701+22T= | NP_004786.2:n.2701+22T= |
| ENST00000380099.3:c.2701+22T= | ENSP00000369442.3:n.2701+22T= |
| ENST00000487852.1:n.2759+22T= | |
| XM_006719895.1:c.1780+22T= | XP_006719958.1:n.1780+22T= |
| XM_006719895.2:c.1780+22T= | XP_006719958.1:n.1780+22T= |