Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27802186G>C , CM000679.2:g.27802186G>C | GRCh38 |
| NC_000017.10:g.26129212G>C , CM000679.1:g.26129212G>C | GRCh37 |
| NC_000017.9:g.23153339G>C | NCBI36 |
| NG_011470.1:g.3344C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582441.1:c.438+1937C>G | ENSP00000462879.1:n.438+1937C>G | |
| XM_011524859.1:c.-74+1937C>G | XP_011523161.1:n.-74+1937C>G |