Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994993G>A , CM000667.2:g.178994993G>A | GRCh38 |
| NC_000005.9:g.178421994G>A , CM000667.1:g.178421994G>A | GRCh37 |
| NC_000005.8:g.178354600G>A | NCBI36 |
| NG_008105.1:g.5131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.-16-33C>T MANE Select | ENSP00000430767.1:n.-16-33C>T | |
| ENST00000650031.1:c.-16-33C>T | ENSP00000497110.1:n.-16-33C>T | |
| ENST00000231188.9:c.-49C>T | ENSP00000231188.5:n.-49C>T | |
| ENST00000517717.1:c.-16-33C>T | ENSP00000430767.1:n.-16-33C>T | |
| NM_000843.3:c.-49C>T | NP_000834.2:n.-49C>T | |
| NM_000843.4:c.-16-33C>T MANE Select | NP_000834.2:n.-16-33C>T |