Linked Data
ClinVar Variation Id:
2757038
ClinVar RCV Id:
RCV003591506
dbSNP Id:
rs749038815
gnomAD v2:
1-3742342-T-G
gnomAD v3:
1-3825778-T-G
gnomAD v4:
1-3825778-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3825778T>G , CM000663.2:g.3825778T>G | GRCh38 |
| NC_000001.10:g.3742342T>G , CM000663.1:g.3742342T>G | GRCh37 |
| NC_000001.9:g.3732202T>G | NCBI36 |
| NG_046726.1:g.36456A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378230.8:c.2344A>C MANE Select | ENSP00000367476.3:p.Arg782= | |
| ENST00000428079.6:c.2344A>C | ENSP00000394989.2:p.Arg782= | |
| ENST00000438539.6:n.1391A>C | ||
| ENST00000461667.2:c.2344A>C | ENSP00000463605.2:p.Arg782= | |
| ENST00000674544.1:c.2170A>C | ENSP00000502641.1:p.Arg724= | |
| ENST00000674558.1:c.2344A>C | ENSP00000501829.1:p.Arg782= | |
| ENST00000674623.1:c.2344A>C | ENSP00000501733.1:p.Arg782= | |
| ENST00000674879.1:n.3280A>C | ||
| ENST00000674985.1:c.*1202A>C | ENSP00000502482.1:n.*1202A>C | |
| ENST00000675108.1:c.*2480A>C | ENSP00000502131.1:n.*2480A>C | |
| ENST00000675200.1:c.*223A>C | ENSP00000502512.1:n.*223A>C | |
| ENST00000675334.1:n.2148A>C | ||
| ENST00000675375.1:c.2170A>C | ENSP00000502180.1:p.Arg724= | |
| ENST00000675666.1:c.2344A>C | ENSP00000502548.1:p.Arg782= | |
| ENST00000675677.1:c.2146A>C | ENSP00000501944.1:p.Arg716= | |
| ENST00000675750.1:c.*1673A>C | ENSP00000502342.1:n.*1673A>C | |
| ENST00000675966.1:n.4016A>C | ||
| ENST00000676009.1:c.*93A>C | ENSP00000502246.1:n.*93A>C | |
| ENST00000676052.1:c.2362A>C | ENSP00000502793.1:p.Arg788= | |
| ENST00000378230.7:c.2344A>C | ENSP00000367476.3:p.Arg782= | |
| ENST00000438539.5:c.234A>C | ||
| ENST00000461667.1:c.301A>C | ENSP00000463605.1:p.Arg101= | |
| NM_014704.3:c.2344A>C | NP_055519.1:p.Arg782= | |
| XM_005244815.3:c.2452A>C | XP_005244872.1:p.Arg818= | |
| XM_011542473.1:c.2470A>C | XP_011540775.1:p.Arg824= | |
| XM_011542474.1:c.2362A>C | XP_011540776.1:p.Arg788= | |
| XM_011542475.1:c.2296A>C | XP_011540777.1:p.Arg766= | |
| XM_011542476.1:c.2272A>C | XP_011540778.1:p.Arg758= | |
| XM_011542477.1:c.2098A>C | XP_011540779.1:p.Arg700= | |
| XM_005244815.4:c.2452A>C | XP_005244872.1:p.Arg818= | |
| XM_011542474.3:c.2362A>C | XP_011540776.1:p.Arg788= | |
| XM_017002918.2:c.2170A>C | XP_016858407.1:p.Arg724= | |
| XM_017002919.2:c.2146A>C | XP_016858408.1:p.Arg716= | |
| XM_024451101.1:c.2470A>C | XP_024306869.1:p.Arg824= | |
| XM_024451102.1:c.2296A>C | XP_024306870.1:p.Arg766= | |
| XM_024451103.1:c.2278A>C | XP_024306871.1:p.Arg760= | |
| XM_024451104.1:c.2272A>C | XP_024306872.1:p.Arg758= | |
| XM_024451106.1:c.2098A>C | XP_024306874.1:p.Arg700= | |
| NM_014704.4:c.2344A>C MANE Select | NP_055519.1:p.Arg782= |