Linked Data
ClinVar Variation Id:
512595
dbSNP Id:
rs373314300
gnomAD v3:
9-92059260-A-G
gnomAD v4:
9-92059260-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92059260A>G , CM000671.2:g.92059260A>G | GRCh38 |
| NC_000009.11:g.94821542A>G , CM000671.1:g.94821542A>G | GRCh37 |
| NC_000009.10:g.93861363A>G | NCBI36 |
| NG_007950.1:g.61149T>C , LRG_272:g.61149T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482632.6:n.1019T>C | ||
| ENST00000686600.1:c.609T>C | ENSP00000509268.1:p.Arg203= | |
| ENST00000686799.1:n.706T>C | ||
| ENST00000687427.1:c.609T>C | ENSP00000509426.1:p.Arg203= | |
| ENST00000687817.1:c.*412T>C | ENSP00000508926.1:n.*412T>C | |
| ENST00000687972.1:c.669T>C | ENSP00000509208.1:p.Arg223= | |
| ENST00000689261.1:n.516T>C | ||
| ENST00000689401.1:c.*859T>C | ENSP00000510251.1:n.*859T>C | |
| ENST00000689423.1:c.*859T>C | ENSP00000508519.1:n.*859T>C | |
| ENST00000690095.1:n.937T>C | ||
| ENST00000690139.1:c.*310T>C | ENSP00000510483.1:n.*310T>C | |
| ENST00000692458.1:n.632T>C | ||
| ENST00000693147.1:c.*625T>C | ENSP00000510358.1:n.*625T>C | |
| ENST00000262554.7:c.609T>C MANE Select | ENSP00000262554.2:p.Arg203= | |
| ENST00000642671.1:c.654T>C | ENSP00000495764.1:n.654T>C | |
| ENST00000643599.1:c.481T>C | ENSP00000494770.1:n.481T>C | |
| ENST00000644140.1:c.*350T>C | ENSP00000493933.1:n.*350T>C | |
| ENST00000646481.1:c.481T>C | ENSP00000496627.1:n.481T>C | |
| ENST00000646534.1:c.*412T>C | ENSP00000495388.1:n.*412T>C | |
| ENST00000262554.6:c.609T>C | ENSP00000262554.2:p.Arg203= | |
| ENST00000482632.5:n.756T>C | ||
| NM_001281303.1:c.609T>C | NP_001268232.1:p.Arg203= | |
| NM_006415.3:c.609T>C | NP_006406.1:p.Arg203= | |
| XM_011518138.1:c.609T>C | XP_011516440.1:p.Arg203= | |
| XM_011518139.1:c.144T>C | XP_011516441.1:p.Arg48= | |
| XM_011518138.2:c.609T>C | XP_011516440.1:p.Arg203= | |
| XM_011518139.3:c.144T>C | XP_011516441.1:p.Arg48= | |
| XM_017014200.2:c.243T>C | XP_016869689.1:p.Arg81= | |
| XM_017014201.2:c.243T>C | XP_016869690.1:p.Arg81= | |
| XM_024447378.1:c.144T>C | XP_024303146.1:p.Arg48= | |
| XM_024447379.1:c.144T>C | XP_024303147.1:p.Arg48= | |
| XR_002956744.1:n.759T>C | ||
| NM_006415.4:c.609T>C MANE Select | NP_006406.1:p.Arg203= | |
| NM_001281303.2:c.609T>C | NP_001268232.1:p.Arg203= | |
| NM_001368272.1:c.243T>C | NP_001355201.1:p.Arg81= | |
| NM_001368273.1:c.144T>C | NP_001355202.1:p.Arg48= |