Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153796844G= , CM000663.2:g.153796844G= | GRCh38 |
| NC_000001.10:g.153769320G= , CM000663.1:g.153769320G= | GRCh37 |
| NC_000001.9:g.152035944G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637918.1:c.136-6768C= | ||
| ENST00000427283.1:n.819+279G= | ||
| XM_017003084.2:c.53+281G= | XP_016858573.1:n.53+281G= | |
| XM_017003085.2:c.53+281G= | XP_016858574.1:n.53+281G= |