Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71784166A>G , CM000666.2:g.71784166A>G | GRCh38 |
| NC_000004.11:g.72649883A>G , CM000666.1:g.72649883A>G | GRCh37 |
| NC_000004.10:g.72868747A>G | NCBI36 |
| NG_012837.2:g.26355T>C | |
| NG_012837.3:g.26355T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273951.12:c.-148T>C | ENSP00000273951.8:n.-148T>C | |
| ENST00000504199.5:c.22-112T>C | ENSP00000421725.1:n.22-112T>C | |
| ENST00000506245.1:c.-36-112T>C | ENSP00000426718.1:n.-36-112T>C | |
| NM_000583.3:c.-148T>C | NP_000574.2:n.-148T>C | |
| NM_001204306.1:c.-36-112T>C | NP_001191235.1:n.-36-112T>C | |
| NM_001204307.1:c.22-112T>C | NP_001191236.1:n.22-112T>C | |
| XM_006714177.2:c.-148T>C | XP_006714240.1:n.-148T>C |