Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147183313A>T , CM000669.2:g.147183313A>T | GRCh38 |
| NC_000007.13:g.146880405A>T , CM000669.1:g.146880405A>T | GRCh37 |
| NC_000007.12:g.146511338A>T | NCBI36 |
| NG_007092.2:g.1071953A>T | |
| NG_007092.3:g.1072313A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1348+50804A>T MANE Select | NP_054860.1:n.1348+50804A>T |
| ENST00000361727.8:c.1348+50804A>T MANE Select | ENSP00000354778.3:n.1348+50804A>T |
| NM_014141.5:c.1348+50804A>T | NP_054860.1:n.1348+50804A>T |
| ENST00000361727.7:c.1348+50804A>T | ENSP00000354778.3:n.1348+50804A>T |
| ENST00000636870.1:n.1210+50804A>T | |
| ENST00000637694.1:n.1251+50804A>T | |
| ENST00000637825.1:n.831+50804A>T | |
| ENST00000638117.1:n.1251+50804A>T | |
| XM_017011950.2:c.1348+50804A>T | XP_016867439.1:n.1348+50804A>T |