Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133258146G>T , CM000671.2:g.133258146G>T | GRCh38 |
| NC_000009.11:g.136133536G>T , CM000671.1:g.136133536G>T | GRCh37 |
| NC_000009.10:g.135123357G>T | NCBI36 |
| NG_006669.1:g.19518C>A | |
| NG_006669.2:g.22069C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.234-14C>A | ||
| ENST00000647353.1:n.54-6994C>A | ||
| ENST00000651471.1:n.239-14C>A | ||
| ENST00000679909.1:c.28+17016C>A | ENSP00000506089.1:n.28+17016C>A | |
| ENST00000453660.3:n.216-14C>A | ||
| ENST00000538324.2:c.204-14C>A | ENSP00000483018.1:n.204-14C>A | |
| ENST00000611156.4:c.204-14C>A | ENSP00000483265.1:n.204-14C>A | |
| NM_020469.2:c.204-14C>A | NP_065202.2:n.204-14C>A | |
| NM_020469.3:c.204-14C>A | NP_065202.2:n.204-14C>A |