Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52846087C>T , CM000675.2:g.52846087C>T | GRCh38 |
| NC_000013.10:g.53420222C>T , CM000675.1:g.53420222C>T | GRCh37 |
| NC_000013.9:g.52318223C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338862.5:c.2340+10G>A | ENSP00000341350.4:n.2340+10G>A | |
| ENST00000377942.7:c.2350G>A MANE Select | ENSP00000367177.3:p.Gly784Arg | |
| NM_002590.3:c.2350G>A | NP_002581.2:p.Gly784Arg | |
| NM_032949.2:c.2340+10G>A | NP_116567.1:n.2340+10G>A | |
| NM_002590.4:c.2350G>A MANE Select | NP_002581.2:p.Gly784Arg | |
| NM_032949.3:c.2340+10G>A | NP_116567.1:n.2340+10G>A |