Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004313G>A , CM000681.2:g.47004313G>A | GRCh38 |
| NC_000019.9:g.47507570G>A , CM000681.1:g.47507570G>A | GRCh37 |
| NC_000019.8:g.52199410G>A | NCBI36 |
| NG_047014.1:g.90747G>A | |
| NG_047014.2:g.148317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.8125G>A | ENSP00000385720.2:n.8125G>A | |
| ENST00000672722.1:c.*3625G>A MANE Select | ENSP00000500409.1:n.*3625G>A | |
| ENST00000404338.7:c.8125G>A | ENSP00000385720.2:n.8125G>A | |
| NM_004491.4:c.8125G>A | NP_004482.4:n.8125G>A | |
| NM_004491.5:c.*3625G>A MANE Select | NP_004482.4:n.*3625G>A |