Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47338520C>G , CM000673.2:g.47338520C>G | GRCh38 |
| NC_000011.9:g.47360071C>G , CM000673.1:g.47360071C>G | GRCh37 |
| NC_000011.8:g.47316647C>G | NCBI36 |
| NG_007667.1:g.19183G>C , LRG_386:g.19183G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000256.3:c.2308G>C , LRG_386t1:c.2308G>C MANE Select | NP_000247.2:p.Asp770His |
| ENST00000545968.6:c.2308G>C MANE Select | ENSP00000442795.1:p.Asp770His |
| ENST00000256993.8:c.2308G>C | ENSP00000256993.5:p.Asp770His |
| ENST00000399249.6:c.2308G>C | ENSP00000382193.2:p.Asp770His |
| ENST00000544791.1:c.2308G>C | ENSP00000444259.1:p.Asp770His |
| ENST00000545968.5:c.2308G>C | ENSP00000442795.1:p.Asp770His |
| XM_011520117.1:c.2290G>C | XP_011518419.1:p.Asp764His |
| XM_011520118.1:c.2227G>C | XP_011518420.1:p.Asp743His |