Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57949352C>T , CM000678.2:g.57949352C>T | GRCh38 |
| NC_000016.9:g.57983256C>T , CM000678.1:g.57983256C>T | GRCh37 |
| NC_000016.8:g.56540757C>T | NCBI36 |
| NG_016351.1:g.26765G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001297.5:c.1121+1G>A MANE Select | NP_001288.3:n.1121+1G>A |
| ENST00000251102.13:c.1121+1G>A MANE Select | ENSP00000251102.8:n.1121+1G>A |
| NM_001286130.1:c.1103+1G>A | NP_001273059.1:n.1103+1G>A |
| NM_001286130.2:c.1103+1G>A | NP_001273059.1:n.1103+1G>A |
| NM_001297.4:c.1121+1G>A | NP_001288.3:n.1121+1G>A |
| ENST00000251102.12:c.1121+1G>A | ENSP00000251102.8:n.1121+1G>A |
| ENST00000564448.5:c.1103+1G>A | ENSP00000454633.1:n.1103+1G>A |
| XM_006721134.2:c.1121+1G>A | XP_006721197.1:n.1121+1G>A |