Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50134116G>A , CM000676.2:g.50134116G>A | GRCh38 |
| NC_000014.8:g.50600834G>A , CM000676.1:g.50600834G>A | GRCh37 |
| NC_000014.7:g.49670584G>A | NCBI36 |
| NG_051073.1:g.102578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3075+7C>T MANE Select | ENSP00000216373.5:n.3075+7C>T | |
| ENST00000216373.9:c.3075+7C>T | ENSP00000216373.5:n.3075+7C>T | |
| ENST00000543680.5:c.2976+7C>T | ENSP00000445328.1:n.2976+7C>T | |
| NM_006939.2:c.3075+7C>T | NP_008870.2:n.3075+7C>T | |
| XM_005268021.1:c.2895+7C>T | XP_005268078.1:n.2895+7C>T | |
| XM_011537103.1:c.3036+7C>T | XP_011535405.1:n.3036+7C>T | |
| NM_006939.3:c.3075+7C>T | NP_008870.2:n.3075+7C>T | |
| NM_006939.4:c.3075+7C>T MANE Select | NP_008870.2:n.3075+7C>T |