Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160881741G>A , CM000663.2:g.160881741G>A | GRCh38 |
| NC_000001.10:g.160851531G>A , CM000663.1:g.160851531G>A | GRCh37 |
| NC_000001.9:g.159118155G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.405+216C>T MANE Select | ENSP00000323587.3:n.405+216C>T | |
| ENST00000326245.3:c.405+216C>T | ENSP00000323587.3:n.405+216C>T | |
| ENST00000464077.1:n.339+216C>T | ||
| NM_017625.2:c.405+216C>T | NP_060095.2:n.405+216C>T | |
| NM_017625.3:c.405+216C>T MANE Select | NP_060095.2:n.405+216C>T |