Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633328C>T , CM000665.2:g.120633328C>T | GRCh38 |
| NC_000003.11:g.120352175C>T , CM000665.1:g.120352175C>T | GRCh37 |
| NC_000003.10:g.121834865C>T | NCBI36 |
| NG_011957.1:g.54154G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1007G>A MANE Select | NP_000178.2:p.Arg336Lys |
| ENST00000283871.10:c.1007G>A MANE Select | ENSP00000283871.5:p.Arg336Lys |
| NM_000187.3:c.1007G>A | NP_000178.2:p.Arg336Lys |
| ENST00000283871.9:c.1007G>A | ENSP00000283871.5:p.Arg336Lys |
| ENST00000470321.1:n.347G>A | |
| ENST00000492108.5:c.286G>A | ENSP00000419838.1:p.Gly96Arg |
| XM_005247412.1:c.782G>A | XP_005247469.1:p.Arg261Lys |
| XM_005247412.2:c.782G>A | XP_005247469.1:p.Arg261Lys |
| XM_017006277.2:c.584G>A | XP_016861766.1:p.Arg195Lys |