Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.785857G>A , CM000669.2:g.785857G>A | GRCh38 |
| NC_000007.13:g.825494G>A , CM000669.1:g.825494G>A | GRCh37 |
| NC_000007.12:g.792020G>A | NCBI36 |
| NG_033137.1:g.64157G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.*204G>A MANE Select | NP_060272.3:n.*204G>A |
| ENST00000297440.11:c.*204G>A MANE Select | ENSP00000297440.6:n.*204G>A |
| NM_017802.3:c.*204G>A | NP_060272.3:n.*204G>A |
| NR_075098.1:n.2730G>A | |
| NR_075098.2:n.2732G>A | |
| ENST00000297440.10:c.*204G>A | ENSP00000297440.6:n.*204G>A |
| ENST00000403952.3:c.*204G>A | ENSP00000384884.3:n.*204G>A |
| ENST00000440747.5:c.2176G>A | |
| XM_024446813.1:c.*204G>A | XP_024302581.1:n.*204G>A |
| XM_024446814.1:c.*204G>A | XP_024302582.1:n.*204G>A |