Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.15605723C>T , CM000672.2:g.15605723C>T | GRCh38 |
| NC_000010.10:g.15647722C>T , CM000672.1:g.15647722C>T | GRCh37 |
| NC_000010.9:g.15687728C>T | NCBI36 |
| NG_034116.1:g.119613G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003638.3:c.1970+1G>A MANE Select | NP_003629.2:n.1970+1G>A |
| ENST00000378076.4:c.1970+1G>A MANE Select | ENSP00000367316.3:n.1970+1G>A |
| NM_001291494.1:c.1925+1G>A | NP_001278423.1:n.1925+1G>A |
| NM_001291494.2:c.1925+1G>A | NP_001278423.1:n.1925+1G>A |
| NM_003638.2:c.1970+1G>A | NP_003629.2:n.1970+1G>A |
| ENST00000378076.3:c.1970+1G>A | ENSP00000367316.3:n.1970+1G>A |
| XM_011519752.1:c.1970+1G>A | XP_011518054.1:n.1970+1G>A |
| XM_011519752.2:c.1970+1G>A | XP_011518054.1:n.1970+1G>A |