Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101235072C>A , CM000677.2:g.101235072C>A | GRCh38 |
| NC_000015.9:g.101775277C>A , CM000677.1:g.101775277C>A | GRCh37 |
| NC_000015.8:g.99592800C>A | NCBI36 |
| NG_031908.1:g.21861G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014918.5:c.816+10G>T MANE Select | NP_055733.2:n.816+10G>T |
| ENST00000254190.4:c.816+10G>T MANE Select | ENSP00000254190.3:n.816+10G>T |
| NM_014918.4:c.816+10G>T | NP_055733.2:n.816+10G>T |
| ENST00000254190.3:c.816+10G>T | ENSP00000254190.3:n.816+10G>T |
| ENST00000543813.2:c.66+10G>T | ENSP00000496160.1:n.66+10G>T |
| XM_011521364.1:c.816+10G>T | XP_011519666.1:n.816+10G>T |
| XM_011521364.2:c.816+10G>T | XP_011519666.1:n.816+10G>T |
| XM_011521365.1:c.-1+183G>T | XP_011519667.1:n.-1+183G>T |