Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153796835C>A , CM000663.2:g.153796835C>A | GRCh38 |
| NC_000001.10:g.153769311C>A , CM000663.1:g.153769311C>A | GRCh37 |
| NC_000001.9:g.152035935C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637918.1:c.136-6759G>T | ||
| ENST00000427283.1:n.819+270C>A | ||
| XM_017003084.2:c.53+272C>A | XP_016858573.1:n.53+272C>A | |
| XM_017003085.2:c.53+272C>A | XP_016858574.1:n.53+272C>A |