Linked Data
ClinVar Variation Id:
403915
ClinVar RCV Id:
RCV000463457
dbSNP Id:
rs769440001
ExAC:
2:73679241 C / T
gnomAD v2:
2-73679241-C-T
gnomAD v4:
2-73452114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73452114C>T , CM000664.2:g.73452114C>T | GRCh38 |
| NC_000002.11:g.73679241C>T , CM000664.1:g.73679241C>T | GRCh37 |
| NC_000002.10:g.73532749C>T | NCBI36 |
| NG_011690.1:g.71362C>T , LRG_741:g.71362C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.5206C>T | ENSP00000507671.1:p.Gln1736Ter | |
| ENST00000682801.1:c.5206C>T | ENSP00000507862.1:p.Gln1736Ter | |
| ENST00000682859.1:c.5206C>T | ENSP00000508222.1:p.Gln1736Ter | |
| ENST00000683791.1:c.685+19823C>T | ||
| ENST00000684197.1:n.556C>T | ||
| ENST00000684460.1:c.2658C>T | ||
| ENST00000684548.1:c.5206C>T | ENSP00000507421.1:p.Gln1736Ter | |
| ENST00000684656.1:c.2658C>T | ||
| ENST00000613296.6:c.5587C>T MANE Select | ENSP00000482968.1:p.Gln1863Ter | |
| ENST00000423048.5:c.418C>T | ENSP00000399833.1:p.Gln140Ter | |
| ENST00000484298.5:c.5461C>T | ENSP00000478155.1:p.Gln1821Ter | |
| ENST00000613296.4:c.5587C>T | ENSP00000482968.1:p.Gln1863Ter | |
| ENST00000614410.4:c.5587C>T | ENSP00000479094.1:p.Gln1863Ter | |
| NM_015120.4:c.5590C>T , LRG_741t1:c.5590C>T | NP_055935.4:p.Gln1864Ter | |
| NM_001378454.1:c.5587C>T MANE Select | NP_001365383.1:p.Gln1863Ter |