Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84012894C>T , CM000678.2:g.84012894C>T | GRCh38 |
| NC_000016.9:g.84046499C>T , CM000678.1:g.84046499C>T | GRCh37 |
| NC_000016.8:g.82604000C>T | NCBI36 |
| NG_034136.1:g.34264G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299709.8:c.1214+107G>A MANE Select | ENSP00000299709.3:n.1214+107G>A | |
| ENST00000299709.7:c.1214+107G>A | ENSP00000299709.3:n.1214+107G>A | |
| ENST00000568003.1:n.290+107G>A | ||
| NM_001080442.2:c.1214+107G>A | NP_001073911.1:n.1214+107G>A | |
| XM_011522872.1:c.1214+107G>A | XP_011521174.1:n.1214+107G>A | |
| XM_017022946.1:c.1214+107G>A | XP_016878435.1:n.1214+107G>A | |
| NM_001080442.3:c.1214+107G>A MANE Select | NP_001073911.1:n.1214+107G>A |