Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101257515G>T , CM000665.2:g.101257515G>T | GRCh38 |
| NC_000003.11:g.100976359G>T , CM000665.1:g.100976359G>T | GRCh37 |
| NC_000003.10:g.102459049G>T | NCBI36 |
| NG_028284.1:g.68061C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.1153+14C>A MANE Select | NP_057331.2:n.1153+14C>A |
| ENST00000193391.8:c.1153+14C>A MANE Select | ENSP00000193391.6:n.1153+14C>A |
| NM_016247.3:c.1153+14C>A | NP_057331.2:n.1153+14C>A |
| ENST00000193391.7:c.1153+14C>A | ENSP00000193391.6:n.1153+14C>A |
| XM_011512871.1:c.859+14C>A | XP_011511173.1:n.859+14C>A |
| XM_011512872.1:c.742+14C>A | XP_011511174.1:n.742+14C>A |