Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153796797C>T , CM000663.2:g.153796797C>T | GRCh38 |
| NC_000001.10:g.153769273C>T , CM000663.1:g.153769273C>T | GRCh37 |
| NC_000001.9:g.152035897C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637918.1:c.136-6721G>A | ||
| ENST00000427283.1:n.819+232C>T | ||
| XM_017003084.2:c.53+234C>T | XP_016858573.1:n.53+234C>T | |
| XM_017003085.2:c.53+234C>T | XP_016858574.1:n.53+234C>T |