Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20587312G>A , CM000686.2:g.20587312G>A | GRCh38 |
| NC_000024.9:g.22749198G>A , CM000686.1:g.22749198G>A | GRCh37 |
| NC_000024.8:g.21158586G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361365.7:c.256-712G>A MANE Select | ENSP00000354722.2:n.256-712G>A | |
| ENST00000361365.6:c.256-712G>A | ENSP00000354722.2:n.256-712G>A | |
| ENST00000382772.3:c.205-712G>A | ENSP00000372222.3:n.205-712G>A | |
| ENST00000464196.5:n.595G>A | ||
| ENST00000465253.1:n.350-712G>A | ||
| NM_001278612.1:c.205-712G>A | NP_001265541.1:n.205-712G>A | |
| NM_004681.3:c.256-712G>A | NP_004672.2:n.256-712G>A | |
| NM_004681.4:c.256-712G>A MANE Select | NP_004672.2:n.256-712G>A | |
| NM_001278612.2:c.205-712G>A | NP_001265541.1:n.205-712G>A |