Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122118G>T , CM000663.2:g.193122118G>T | GRCh38 |
| NC_000001.10:g.193091248G>T , CM000663.1:g.193091248G>T | GRCh37 |
| NC_000001.9:g.191357871G>T | NCBI36 |
| NG_012691.1:g.5161G>T , LRG_507:g.5161G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.-83G>T MANE Select | ENSP00000356405.4:n.-83G>T | |
| ENST00000643006.1:c.-83G>T | ENSP00000496633.1:n.-83G>T | |
| ENST00000649895.1:n.136G>T | ||
| ENST00000650197.1:c.-83G>T | ENSP00000496929.1:n.-83G>T | |
| ENST00000367435.3:c.-83G>T | ENSP00000356405.3:n.-83G>T | |
| NM_024529.4:c.-83G>T , LRG_507t1:c.-83G>T | NP_078805.3:n.-83G>T | |
| XM_006711537.2:c.-83G>T | XP_006711600.1:n.-83G>T | |
| XM_006711537.4:c.-83G>T | XP_006711600.1:n.-83G>T | |
| XR_001738350.1:n.1539C>A | ||
| NM_024529.5:c.-83G>T MANE Select | NP_078805.3:n.-83G>T |