Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33443806G>A , CM000682.2:g.33443806G>A | GRCh38 |
| NC_000020.10:g.32031612G>A , CM000682.1:g.32031612G>A | GRCh37 |
| NC_000020.9:g.31495273G>A | NCBI36 |
| NG_011622.1:g.5087C>T , LRG_332:g.5087C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217381.2:c.-186C>T | ENSP00000217381.2:n.-186C>T | |
| NM_003098.2:c.-186C>T , LRG_332t1:c.-186C>T | NP_003089.1:n.-186C>T | |
| XM_005260517.1:c.-186C>T | XP_005260574.1:n.-186C>T | |
| XM_011529007.1:c.-186C>T | XP_011527309.1:n.-186C>T | |
| XM_011529008.1:c.-186C>T | XP_011527310.1:n.-186C>T | |
| XR_936612.1:n.48C>T |