Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.73679802T>C , CM000678.2:g.73679802T>C | GRCh38 |
| NC_000016.9:g.73713701T>C , CM000678.1:g.73713701T>C | GRCh37 |
| NC_000016.8:g.72271202T>C | NCBI36 |
| NG_013211.2:g.217130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641018.1:n.539A>G | ||
| ENST00000641206.2:c.-1547+378A>G | ENSP00000493252.1:n.-1547+378A>G | |
| ENST00000642085.1:n.163+378A>G | ||
| XR_933730.1:n.355+378A>G | ||
| XM_024450275.1:c.-494+378A>G | XP_024306043.1:n.-494+378A>G | |
| NM_001386735.1:c.-1064+378A>G | NP_001373664.1:n.-1064+378A>G |