Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46920933A>T , CM000666.2:g.46920933A>T | GRCh38 |
| NC_000004.11:g.46922950A>T , CM000666.1:g.46922950A>T | GRCh37 |
| NC_000004.10:g.46617707A>T | NCBI36 |
| NG_011809.1:g.77631T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000809.4:c.*7292T>A MANE Select | NP_000800.2:n.*7292T>A |
| ENST00000264318.4:c.*7292T>A MANE Select | ENSP00000264318.3:n.*7292T>A |
| NM_000809.3:c.*7292T>A | NP_000800.2:n.*7292T>A |
| NM_001204266.1:c.*7292T>A | NP_001191195.1:n.*7292T>A |
| NM_001204266.2:c.*7292T>A | NP_001191195.1:n.*7292T>A |
| NM_001204267.1:c.*7292T>A | NP_001191196.1:n.*7292T>A |
| NM_001204267.2:c.*7292T>A | NP_001191196.1:n.*7292T>A |
| ENST00000264318.3:c.*7292T>A | ENSP00000264318.3:n.*7292T>A |
| XM_011513677.1:c.*7292T>A | XP_011511979.1:n.*7292T>A |