Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56454697T>C , CM000674.2:g.56454697T>C | GRCh38 |
| NC_000012.11:g.56848481T>C , CM000674.1:g.56848481T>C | GRCh37 |
| NC_000012.10:g.55134748T>C | NCBI36 |
| NG_021397.1:g.4955A>G | |
| NG_021397.2:g.19470A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000555551.1:n.317-942A>G | |
| ENST00000648304.1:c.183-942A>G | ENSP00000497190.1:n.183-942A>G |
| ENST00000648442.1:n.494-942A>G | |
| ENST00000650166.1:n.250-942A>G | |
| XM_011538354.1:c.76-942A>G | XP_011536656.1:n.76-942A>G |