Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17293443C>T , CM000669.2:g.17293443C>T | GRCh38 |
| NC_000007.13:g.17333067C>T , CM000669.1:g.17333067C>T | GRCh37 |
| NC_000007.12:g.17299592C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642825.1:c.-202-2854C>T | ENSP00000495987.1:n.-202-2854C>T | |
| XR_927069.1:n.293+1723G>A | ||
| XR_927070.1:n.293+1723G>A | ||
| XR_927071.1:n.293+1723G>A | ||
| XR_927072.1:n.294+1723G>A | ||
| XR_927073.1:n.295+1723G>A | ||
| XR_927073.2:n.295+1723G>A |