Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255466C>T , CM000671.2:g.133255466C>T | GRCh38 |
| NC_000009.11:g.136130853C>T , CM000671.1:g.136130853C>T | GRCh37 |
| NC_000009.10:g.135120674C>T | NCBI36 |
| NG_006669.1:g.22202G>A | |
| NG_006669.2:g.24750G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1294G>A | ||
| ENST00000647353.1:n.54-4314G>A | ||
| ENST00000679909.1:c.28+19696G>A | ENSP00000506089.1:n.28+19696G>A | |
| ENST00000453660.3:n.1276G>A | ||
| ENST00000611156.4:c.*200G>A | ENSP00000483265.1:n.*200G>A | |
| NM_020469.2:c.*200G>A | NP_065202.2:n.*200G>A | |
| NM_020469.3:c.*200G>A | NP_065202.2:n.*200G>A |