gnomAD v3:
gnomAD v4:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179224176A>G , CM000665.2:g.179224176A>G | GRCh38 |
| NC_000003.11:g.178941964A>G , CM000665.1:g.178941964A>G | GRCh37 |
| NC_000003.10:g.180424658A>G | NCBI36 |
| NG_012113.2:g.80654A>G , LRG_310:g.80654A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.2283A>G MANE Select | ENSP00000263967.3:p.Leu761= | |
| ENST00000462255.2:n.745A>G | ||
| ENST00000643187.1:c.2283A>G | ENSP00000493507.1:p.Leu761= | |
| ENST00000674534.1:n.3191A>G | ||
| ENST00000674622.1:c.704A>G | ENSP00000502417.1:n.704A>G | |
| ENST00000675467.1:n.5090A>G | ||
| ENST00000675786.1:c.*850A>G | ENSP00000502323.1:n.*850A>G | |
| ENST00000263967.3:c.2283A>G | ENSP00000263967.3:p.Leu761= | |
| ENST00000462255.1:n.557A>G | ||
| NM_006218.2:c.2283A>G , LRG_310t1:c.2283A>G | NP_006209.2:p.Leu761= | |
| XM_006713658.2:c.2283A>G | XP_006713721.1:p.Leu761= | |
| XM_011512894.1:c.2283A>G | XP_011511196.1:p.Leu761= | |
| NM_006218.3:c.2283A>G | NP_006209.2:p.Leu761= | |
| XM_006713658.4:c.2283A>G | XP_006713721.1:p.Leu761= | |
| XM_011512894.2:c.2283A>G | XP_011511196.1:p.Leu761= | |
| NM_006218.4:c.2283A>G MANE Select | NP_006209.2:p.Leu761= |