Linked Data
ClinVar Variation Id:
506467
dbSNP Id:
rs368250605
ExAC:
2:73784336 C / T
gnomAD v2:
2-73784336-C-T
gnomAD v3:
2-73557209-C-T
gnomAD v4:
2-73557209-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73557209C>T , CM000664.2:g.73557209C>T | GRCh38 |
| NC_000002.11:g.73784336C>T , CM000664.1:g.73784336C>T | GRCh37 |
| NC_000002.10:g.73637844C>T | NCBI36 |
| NG_011690.1:g.176457C>T , LRG_741:g.176457C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.9698-11C>T | ENSP00000507671.1:n.9698-11C>T | |
| ENST00000682801.1:c.9698-11C>T | ENSP00000507862.1:n.9698-11C>T | |
| ENST00000682859.1:c.9698-11C>T | ENSP00000508222.1:n.9698-11C>T | |
| ENST00000683791.1:c.3089+6772C>T | ||
| ENST00000684460.1:c.6979-11C>T | ||
| ENST00000684548.1:c.9698-11C>T | ENSP00000507421.1:n.9698-11C>T | |
| ENST00000684590.1:c.4145-11C>T | ENSP00000507376.1:n.4145-11C>T | |
| ENST00000684656.1:c.7024-11C>T | ||
| ENST00000613296.6:c.10079-11C>T MANE Select | ENSP00000482968.1:n.10079-11C>T | |
| ENST00000651057.1:c.233-11C>T | ENSP00000498504.1:n.233-11C>T | |
| ENST00000651434.1:c.1435-11C>T | ||
| ENST00000652487.1:c.1176-11C>T | ||
| ENST00000423048.5:c.3570-11C>T | ENSP00000399833.1:n.3570-11C>T | |
| ENST00000476650.2:n.199-11C>T | ||
| ENST00000484298.5:c.9953-11C>T | ENSP00000478155.1:n.9953-11C>T | |
| ENST00000613296.4:c.10079-11C>T | ENSP00000482968.1:n.10079-11C>T | |
| ENST00000614410.4:c.10079-11C>T | ENSP00000479094.1:n.10079-11C>T | |
| ENST00000620466.4:n.3882-11C>T | ||
| NM_015120.4:c.10082-11C>T , LRG_741t1:c.10082-11C>T | NP_055935.4:n.10082-11C>T | |
| NM_001378454.1:c.10079-11C>T MANE Select | NP_001365383.1:n.10079-11C>T |