Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256438G>T , CM000671.2:g.133256438G>T | GRCh38 |
| NC_000009.11:g.136131825G>T , CM000671.1:g.136131825G>T | GRCh37 |
| NC_000009.10:g.135121646G>T | NCBI36 |
| NG_006669.1:g.21230C>A | |
| NG_006669.2:g.23778C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.404-82C>A | ||
| ENST00000647353.1:n.54-5286C>A | ||
| ENST00000651471.1:n.330-82C>A | ||
| ENST00000679909.1:c.28+18724C>A | ENSP00000506089.1:n.28+18724C>A | |
| ENST00000453660.3:n.386-82C>A | ||
| ENST00000538324.2:c.372-82C>A | ENSP00000483018.1:n.372-82C>A | |
| ENST00000611156.4:c.372-82C>A | ENSP00000483265.1:n.372-82C>A | |
| NM_020469.2:c.375-82C>A | NP_065202.2:n.375-82C>A | |
| NM_020469.3:c.375-82C>A | NP_065202.2:n.375-82C>A |