Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46927651G>T , CM000666.2:g.46927651G>T | GRCh38 |
| NC_000004.11:g.46929668G>T , CM000666.1:g.46929668G>T | GRCh37 |
| NC_000004.10:g.46624425G>T | NCBI36 |
| NG_011809.1:g.70913C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000809.4:c.*574C>A MANE Select | NP_000800.2:n.*574C>A |
| ENST00000264318.4:c.*574C>A MANE Select | ENSP00000264318.3:n.*574C>A |
| NM_000809.3:c.*574C>A | NP_000800.2:n.*574C>A |
| NM_001204266.1:c.*574C>A | NP_001191195.1:n.*574C>A |
| NM_001204266.2:c.*574C>A | NP_001191195.1:n.*574C>A |
| NM_001204267.1:c.*574C>A | NP_001191196.1:n.*574C>A |
| NM_001204267.2:c.*574C>A | NP_001191196.1:n.*574C>A |
| ENST00000264318.3:c.*574C>A | ENSP00000264318.3:n.*574C>A |
| XM_011513677.1:c.*574C>A | XP_011511979.1:n.*574C>A |