Linked Data
ClinVar Variation Id:
215480
dbSNP Id:
rs201826366
ExAC:
6:116953366 A / G
gnomAD v2:
6-116953366-A-G
gnomAD v3:
6-116632203-A-G
gnomAD v4:
6-116632203-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116632203A>G , CM000668.2:g.116632203A>G | GRCh38 |
| NC_000006.11:g.116953366A>G , CM000668.1:g.116953366A>G | GRCh37 |
| NC_000006.10:g.117060059A>G | NCBI36 |
| NG_012934.1:g.20725A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.1917-4A>G MANE Select | ENSP00000229554.5:n.1917-4A>G | |
| ENST00000229554.9:c.1917-4A>G | ENSP00000229554.5:n.1917-4A>G | |
| ENST00000368580.4:c.1176-4A>G | ENSP00000357569.4:n.1176-4A>G | |
| ENST00000368581.8:c.1781-4A>G | ENSP00000357570.4:n.1781-4A>G | |
| NM_001010892.2:c.1917-4A>G | NP_001010892.1:n.1917-4A>G | |
| NM_001161664.1:c.1781-4A>G | NP_001155136.1:n.1781-4A>G | |
| XM_006715469.2:c.1877-4A>G | XP_006715532.1:n.1877-4A>G | |
| XM_011535791.1:c.1917-4A>G | XP_011534093.1:n.1917-4A>G | |
| XM_011535792.1:c.1917-4A>G | XP_011534094.1:n.1917-4A>G | |
| XR_942416.1:n.4818-4A>G | ||
| XM_017010826.1:c.1781-4A>G | XP_016866315.1:n.1781-4A>G | |
| NM_001010892.3:c.1917-4A>G MANE Select | NP_001010892.1:n.1917-4A>G | |
| NM_001161664.2:c.1781-4A>G | NP_001155136.1:n.1781-4A>G |