Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255935G>A , CM000671.2:g.133255935G>A | GRCh38 |
| NC_000009.11:g.136131322G>A , CM000671.1:g.136131322G>A | GRCh37 |
| NC_000009.10:g.135121143G>A | NCBI36 |
| NG_006669.1:g.21733C>T | |
| NG_006669.2:g.24281C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020469.2:c.796C>T | NP_065202.2:p.Leu266= |
| NM_020469.3:c.796C>T | NP_065202.2:p.Leu266= |
| ENST00000453660.3:n.807C>T | |
| ENST00000453660.4:n.825C>T | |
| ENST00000538324.2:c.793C>T | ENSP00000483018.1:p.Leu265= |
| ENST00000611156.4:c.793C>T | ENSP00000483265.1:p.Leu265= |
| ENST00000647353.1:n.54-4783C>T | |
| ENST00000679909.1:c.28+19227C>T | ENSP00000506089.1:n.28+19227C>T |