Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88627475T>C , CM000664.2:g.88627475T>C | GRCh38 |
| NC_000002.11:g.88926993T>C , CM000664.1:g.88926993T>C | GRCh37 |
| NC_000002.10:g.88708108T>C | NCBI36 |
| NG_016424.1:g.5102A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004836.5:c.-201A>G | NP_004827.4:n.-201A>G |
| NM_004836.6:c.-201A>G | NP_004827.4:n.-201A>G |
| ENST00000303236.7:c.-201A>G | ENSP00000307235.3:n.-201A>G |
| ENST00000682892.1:c.-145-13622A>G | ENSP00000507214.1:n.-145-13622A>G |
| XR_939749.1:n.9A>G |