Linked Data
ClinVar Variation Id:
362794
ClinVar RCV Id:
RCV000383374
dbSNP Id:
rs370014019
ExAC:
8:30915927 A / G
gnomAD v2:
8-30915927-A-G
gnomAD v3:
8-31058411-A-G
gnomAD v4:
8-31058411-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31058411A>G , CM000670.2:g.31058411A>G | GRCh38 |
| NC_000008.10:g.30915927A>G , CM000670.1:g.30915927A>G | GRCh37 |
| NC_000008.9:g.31035469A>G | NCBI36 |
| NG_008870.1:g.30150A>G , LRG_524:g.30150A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.-37A>G MANE Select | ENSP00000298139.5:n.-37A>G | |
| ENST00000650667.1:c.-37A>G | ENSP00000498593.1:n.-37A>G | |
| ENST00000298139.5:c.-37A>G | ENSP00000298139.5:n.-37A>G | |
| NM_000553.4:c.-37A>G , LRG_524t1:c.-37A>G | NP_000544.2:n.-37A>G | |
| XM_011544639.1:c.-37A>G | XP_011542941.1:n.-37A>G | |
| XR_949470.1:n.237A>G | ||
| XR_949471.1:n.237A>G | ||
| XR_949472.1:n.237A>G | ||
| NM_000553.5:c.-37A>G | NP_000544.2:n.-37A>G | |
| XM_011544639.3:c.-37A>G | XP_011542941.1:n.-37A>G | |
| XM_024447265.1:c.-371A>G | XP_024303033.1:n.-371A>G | |
| XR_949470.3:n.265A>G | ||
| XR_949471.3:n.265A>G | ||
| XR_949472.3:n.265A>G | ||
| NM_000553.6:c.-37A>G MANE Select | NP_000544.2:n.-37A>G |