Linked Data
ClinVar Variation Id:
381854
dbSNP Id:
rs778628163
ExAC:
8:38103420 A / C
gnomAD v2:
8-38103420-A-C
gnomAD v3:
8-38245902-A-C
gnomAD v4:
8-38245902-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38245902A>C , CM000670.2:g.38245902A>C | GRCh38 |
| NC_000008.10:g.38103420A>C , CM000670.1:g.38103420A>C | GRCh37 |
| NC_000008.9:g.38222577A>C | NCBI36 |
| NG_033875.1:g.19412A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.1009A>C MANE Select | ENSP00000380352.2:p.Arg337= | |
| ENST00000397166.6:c.1009A>C | ENSP00000380352.2:p.Arg337= | |
| ENST00000520272.6:c.1009A>C | ENSP00000429932.2:p.Arg337= | |
| ENST00000527415.5:c.*369A>C | ENSP00000432024.1:n.*369A>C | |
| ENST00000528888.5:n.582A>C | ||
| ENST00000531344.1:n.319A>C | ||
| ENST00000532106.1:c.387A>C | ||
| NM_001164232.1:c.1009A>C | NP_001157704.1:p.Arg337= | |
| NM_015214.2:c.1009A>C | NP_056029.2:p.Arg337= | |
| XM_005273454.1:c.1009A>C | XP_005273511.1:p.Arg337= | |
| XM_005273455.2:c.1009A>C | XP_005273512.1:p.Arg337= | |
| XM_005273456.2:c.919A>C | XP_005273513.1:p.Arg307= | |
| XM_005273457.2:c.-67A>C | XP_005273514.1:n.-67A>C | |
| XM_011544455.1:c.1009A>C | XP_011542757.1:p.Arg337= | |
| XM_011544456.1:c.1009A>C | XP_011542758.1:p.Arg337= | |
| XR_247123.1:n.1534A>C | ||
| XR_949383.1:n.1534A>C | ||
| XR_949384.1:n.1534A>C | ||
| XR_949385.1:n.1534A>C | ||
| XR_949386.1:n.1534A>C | ||
| XR_949387.1:n.1534A>C | ||
| NM_001362911.1:c.1009A>C | NP_001349840.1:p.Arg337= | |
| NM_001362912.1:c.1009A>C | NP_001349841.1:p.Arg337= | |
| NM_001362913.1:c.919A>C | NP_001349842.1:p.Arg307= | |
| NM_001362914.1:c.1009A>C | NP_001349843.1:p.Arg337= | |
| NR_156416.1:n.1386A>C | ||
| NR_156417.1:n.1386A>C | ||
| XM_011544456.2:c.1009A>C | XP_011542758.1:p.Arg337= | |
| XM_017013255.2:c.-67A>C | XP_016868744.1:n.-67A>C | |
| XR_001745504.2:n.1292A>C | ||
| XR_001745506.2:n.1292A>C | ||
| NM_001362911.2:c.1009A>C | NP_001349840.1:p.Arg337= | |
| NM_001362912.2:c.1009A>C | NP_001349841.1:p.Arg337= | |
| NM_015214.3:c.1009A>C MANE Select | NP_056029.2:p.Arg337= | |
| NR_156417.2:n.1292A>C | ||
| NM_001164232.2:c.1009A>C | NP_001157704.1:p.Arg337= | |
| NM_001362913.2:c.919A>C | NP_001349842.1:p.Arg307= | |
| NM_001362914.2:c.1009A>C | NP_001349843.1:p.Arg337= | |
| NR_156416.2:n.1292A>C |