Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674912G= , CM000674.2:g.114674912G= | GRCh38 |
| NC_000012.11:g.115112717G= , CM000674.1:g.115112717G= | GRCh37 |
| NC_000012.10:g.113597100G= | NCBI36 |
| NG_008315.1:g.14253C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1040-77C= MANE Select | ENSP00000257567.2:n.1040-77C= | |
| ENST00000257566.7:c.1100-77C= | ENSP00000257566.3:n.1100-77C= | |
| ENST00000349155.6:c.1040-77C= | ENSP00000257567.2:n.1040-77C= | |
| ENST00000613550.1:c.1040-77C= | ENSP00000480048.1:n.1040-77C= | |
| NM_005996.3:c.1040-77C= | NP_005987.3:n.1040-77C= | |
| NM_016569.3:c.1100-77C= | NP_057653.3:n.1100-77C= | |
| NM_005996.4:c.1040-77C= MANE Select | NP_005987.3:n.1040-77C= | |
| NM_016569.4:c.1100-77C= | NP_057653.3:n.1100-77C= |