Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43416842C>G , CM000683.2:g.43416842C>G | GRCh38 |
| NG_052009.1:g.15291G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2252G>C MANE Select | ENSP00000270162.6:p.Arg751Thr | |
| ENST00000270162.6:c.2252G>C | ENSP00000270162.6:p.Arg751Thr | |
| NM_173354.3:c.2252G>C | NP_775490.2:p.Arg751Thr | |
| XM_011529474.1:c.2105G>C | XP_011527776.1:p.Arg702Thr | |
| NM_173354.4:c.2252G>C | NP_775490.2:p.Arg751Thr | |
| XM_011529474.2:c.2105G>C | XP_011527776.1:p.Arg702Thr | |
| NM_173354.5:c.2252G>C MANE Select | NP_775490.2:p.Arg751Thr |