Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255999G>A , CM000671.2:g.133255999G>A | GRCh38 |
| NC_000009.11:g.136131386G>A , CM000671.1:g.136131386G>A | GRCh37 |
| NC_000009.10:g.135121207G>A | NCBI36 |
| NG_006669.1:g.21669C>T | |
| NG_006669.2:g.24217C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.761C>T | ||
| ENST00000647353.1:n.54-4847C>T | ||
| ENST00000679909.1:c.28+19163C>T | ENSP00000506089.1:n.28+19163C>T | |
| ENST00000453660.3:n.743C>T | ||
| ENST00000538324.2:c.729C>T | ENSP00000483018.1:p.Phe243= | |
| ENST00000611156.4:c.729C>T | ENSP00000483265.1:p.Phe243= | |
| NM_020469.2:c.732C>T | NP_065202.2:p.Phe244= | |
| NM_020469.3:c.732C>T | NP_065202.2:p.Phe244= |