Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99983157C>T , CM000675.2:g.99983157C>T | GRCh38 |
| NC_000013.10:g.100635411C>T , CM000675.1:g.100635411C>T | GRCh37 |
| NC_000013.9:g.99433412C>T | NCBI36 |
| NG_007085.2:g.6093C>T | |
| NG_007085.3:g.6402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1075+18C>T MANE Select | ENSP00000365514.3:n.1075+18C>T | |
| ENST00000376335.7:c.1075+18C>T | ENSP00000365514.3:n.1075+18C>T | |
| ENST00000620342.1:c.1072+18C>T | ENSP00000481510.1:n.1072+18C>T | |
| NM_007129.3:c.1075+18C>T | NP_009060.2:n.1075+18C>T | |
| XM_011521110.1:c.1075+18C>T | XP_011519412.1:n.1075+18C>T | |
| NM_007129.4:c.1075+18C>T | NP_009060.2:n.1075+18C>T | |
| NM_007129.5:c.1075+18C>T MANE Select | NP_009060.2:n.1075+18C>T |