Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255681C>A , CM000671.2:g.133255681C>A | GRCh38 |
| NC_000009.11:g.136131068C>A , CM000671.1:g.136131068C>A | GRCh37 |
| NC_000009.10:g.135120889C>A | NCBI36 |
| NG_006669.1:g.21987G>T | |
| NG_006669.2:g.24535G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1079G>T | ||
| ENST00000647353.1:n.54-4529G>T | ||
| ENST00000679909.1:c.28+19481G>T | ENSP00000506089.1:n.28+19481G>T | |
| ENST00000453660.3:n.1061G>T | ||
| ENST00000538324.2:c.1047G>T | ENSP00000483018.1:p.Ala349= | |
| ENST00000611156.4:c.1047G>T | ENSP00000483265.1:p.Ala349= | |
| NM_020469.2:c.1050G>T | NP_065202.2:p.Ala350= | |
| NM_020469.3:c.1050G>T | NP_065202.2:p.Ala350= |