Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55924470G>C , CM000681.2:g.55924470G>C | GRCh38 |
| NC_000019.9:g.56435836G>C , CM000681.1:g.56435836G>C | GRCh37 |
| NC_000019.8:g.61127648G>C | NCBI36 |
| NG_053013.1:g.12867C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_176810.2:c.457+120C>G MANE Select | NP_789780.2:n.457+120C>G |
| ENST00000342929.4:c.457+120C>G MANE Select | ENSP00000343891.3:n.457+120C>G |
| NM_001321057.1:c.457+120C>G | NP_001307986.1:n.457+120C>G |
| ENST00000342929.3:c.457+120C>G | ENSP00000343891.3:n.457+120C>G |
| ENST00000588751.5:c.457+120C>G | ENSP00000467899.1:n.457+120C>G |
| XM_005258510.1:c.457+120C>G | XP_005258567.1:n.457+120C>G |