Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153796886G>C , CM000663.2:g.153796886G>C | GRCh38 |
| NC_000001.10:g.153769362G>C , CM000663.1:g.153769362G>C | GRCh37 |
| NC_000001.9:g.152035986G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637918.1:c.136-6810C>G | ||
| ENST00000427283.1:n.819+321G>C | ||
| XM_017003084.2:c.53+323G>C | XP_016858573.1:n.53+323G>C | |
| XM_017003085.2:c.53+323G>C | XP_016858574.1:n.53+323G>C |