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