Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23573308C= , CM000684.2:g.23573308C= | GRCh38 |
| NC_000022.10:g.23915495C= , CM000684.1:g.23915495C= | GRCh37 |
| NC_000022.9:g.22245495C= | NCBI36 |
| NG_009791.1:g.12001G= , LRG_69:g.12001G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.600G= MANE Select | ENSP00000329312.2:p.Gly200= | |
| ENST00000249053.3:c.*229G= | ENSP00000249053.3:n.*229G= | |
| ENST00000330377.2:c.600G= | ENSP00000329312.2:p.Gly200= | |
| NM_020070.3:c.600G= | NP_064455.1:p.Gly200= | |
| NM_152855.2:c.*229G= | NP_690594.1:n.*229G= | |
| XM_011530169.1:c.603G= | XP_011528471.1:p.Gly201= | |
| XM_011530169.2:c.603G= | XP_011528471.1:p.Gly201= | |
| NM_020070.4:c.600G= MANE Select | NP_064455.1:p.Gly200= | |
| NM_001369906.1:c.603G= | NP_001356835.1:p.Gly201= | |
| NM_152855.3:c.*229G= | NP_690594.1:n.*229G= |