Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20756752C= , CM000686.2:g.20756752C= | GRCh38 |
| NC_000024.9:g.22918638C= , CM000686.1:g.22918638C= | GRCh37 |
| NC_000024.8:g.21328026C= | NCBI36 |
| NG_032924.1:g.5685C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000629237.2:c.4-26C= MANE Select | ENSP00000486252.1:n.4-26C= | |
| ENST00000629237.1:c.4-26C= | ENSP00000486252.1:n.4-26C= | |
| NM_001039567.2:c.4-26C= | NP_001034656.1:n.4-26C= | |
| NM_001039567.3:c.4-26C= MANE Select | NP_001034656.1:n.4-26C= |