Linked Data
ClinVar Variation Id:
452548
dbSNP Id:
rs201258800
ExAC:
8:38103396 C / T
gnomAD v2:
8-38103396-C-T
gnomAD v3:
8-38245878-C-T
gnomAD v4:
8-38245878-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38245878C>T , CM000670.2:g.38245878C>T | GRCh38 |
| NC_000008.10:g.38103396C>T , CM000670.1:g.38103396C>T | GRCh37 |
| NC_000008.9:g.38222553C>T | NCBI36 |
| NG_033875.1:g.19388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.985C>T MANE Select | ENSP00000380352.2:p.Arg329Ter | |
| ENST00000397166.6:c.985C>T | ENSP00000380352.2:p.Arg329Ter | |
| ENST00000520272.6:c.985C>T | ENSP00000429932.2:p.Arg329Ter | |
| ENST00000527415.5:c.*345C>T | ENSP00000432024.1:n.*345C>T | |
| ENST00000528888.5:n.558C>T | ||
| ENST00000531344.1:n.295C>T | ||
| ENST00000532106.1:c.363C>T | ||
| NM_001164232.1:c.985C>T | NP_001157704.1:p.Arg329Ter | |
| NM_015214.2:c.985C>T | NP_056029.2:p.Arg329Ter | |
| XM_005273454.1:c.985C>T | XP_005273511.1:p.Arg329Ter | |
| XM_005273455.2:c.985C>T | XP_005273512.1:p.Arg329Ter | |
| XM_005273456.2:c.895C>T | XP_005273513.1:p.Arg299Ter | |
| XM_011544455.1:c.985C>T | XP_011542757.1:p.Arg329Ter | |
| XM_011544456.1:c.985C>T | XP_011542758.1:p.Arg329Ter | |
| XR_247123.1:n.1510C>T | ||
| XR_949383.1:n.1510C>T | ||
| XR_949384.1:n.1510C>T | ||
| XR_949385.1:n.1510C>T | ||
| XR_949386.1:n.1510C>T | ||
| XR_949387.1:n.1510C>T | ||
| NM_001362911.1:c.985C>T | NP_001349840.1:p.Arg329Ter | |
| NM_001362912.1:c.985C>T | NP_001349841.1:p.Arg329Ter | |
| NM_001362913.1:c.895C>T | NP_001349842.1:p.Arg299Ter | |
| NM_001362914.1:c.985C>T | NP_001349843.1:p.Arg329Ter | |
| NR_156416.1:n.1362C>T | ||
| NR_156417.1:n.1362C>T | ||
| XM_011544456.2:c.985C>T | XP_011542758.1:p.Arg329Ter | |
| XM_017013255.2:c.-91C>T | XP_016868744.1:n.-91C>T | |
| XR_001745504.2:n.1268C>T | ||
| XR_001745506.2:n.1268C>T | ||
| NM_001362911.2:c.985C>T | NP_001349840.1:p.Arg329Ter | |
| NM_001362912.2:c.985C>T | NP_001349841.1:p.Arg329Ter | |
| NM_015214.3:c.985C>T MANE Select | NP_056029.2:p.Arg329Ter | |
| NR_156417.2:n.1268C>T | ||
| NM_001164232.2:c.985C>T | NP_001157704.1:p.Arg329Ter | |
| NM_001362913.2:c.895C>T | NP_001349842.1:p.Arg299Ter | |
| NM_001362914.2:c.985C>T | NP_001349843.1:p.Arg329Ter | |
| NR_156416.2:n.1268C>T |