Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165069030C>T , CM000665.2:g.165069030C>T | GRCh38 |
| NC_000003.11:g.164786818C>T , CM000665.1:g.164786818C>T | GRCh37 |
| NC_000003.10:g.166269512C>T | NCBI36 |
| NG_017043.1:g.14466G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.373+48G>A MANE Select | ENSP00000264382.3:n.373+48G>A | |
| ENST00000264382.7:c.373+48G>A | ENSP00000264382.3:n.373+48G>A | |
| ENST00000476593.1:c.*248+48G>A | ENSP00000419450.1:n.*248+48G>A | |
| NM_001041.3:c.373+48G>A | NP_001032.2:n.373+48G>A | |
| XM_011513078.1:c.274+48G>A | XP_011511380.1:n.274+48G>A | |
| XM_011513078.2:c.274+48G>A | XP_011511380.1:n.274+48G>A | |
| NM_001041.4:c.373+48G>A MANE Select | NP_001032.2:n.373+48G>A |