Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.15519544T= , CM000672.2:g.15519544T= | GRCh38 |
| NC_000010.10:g.15561543T= , CM000672.1:g.15561543T= | GRCh37 |
| NC_000010.9:g.15601549T= | NCBI36 |
| NG_034116.1:g.205792A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003638.3:c.2983-132A= MANE Select | NP_003629.2:n.2983-132A= |
| ENST00000378076.4:c.2983-132A= MANE Select | ENSP00000367316.3:n.2983-132A= |
| NM_001291494.1:c.2938-132A= | NP_001278423.1:n.2938-132A= |
| NM_001291494.2:c.2938-132A= | NP_001278423.1:n.2938-132A= |
| NM_003638.2:c.2983-132A= | NP_003629.2:n.2983-132A= |
| ENST00000378076.3:c.2983-132A= | ENSP00000367316.3:n.2983-132A= |