Linked Data
ClinVar Variation Id:
362792
ClinVar RCV Id:
RCV000283028
dbSNP Id:
rs11574160
gnomAD v2:
8-30891403-C-G
gnomAD v3:
8-31033887-C-G
gnomAD v4:
8-31033887-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033887C>G , CM000670.2:g.31033887C>G | GRCh38 |
| NC_000008.10:g.30891403C>G , CM000670.1:g.30891403C>G | GRCh37 |
| NC_000008.9:g.31010945C>G | NCBI36 |
| NG_008870.1:g.5626C>G , LRG_524:g.5626C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.-163C>G MANE Select | ENSP00000298139.5:n.-163C>G | |
| ENST00000650667.1:c.-163C>G | ENSP00000498593.1:n.-163C>G | |
| ENST00000298139.5:c.-163C>G | ENSP00000298139.5:n.-163C>G | |
| NM_000553.4:c.-163C>G , LRG_524t1:c.-163C>G | NP_000544.2:n.-163C>G | |
| XM_011544639.1:c.-163C>G | XP_011542941.1:n.-163C>G | |
| XR_949470.1:n.111C>G | ||
| XR_949471.1:n.111C>G | ||
| XR_949472.1:n.111C>G | ||
| NM_000553.5:c.-163C>G | NP_000544.2:n.-163C>G | |
| XM_011544639.3:c.-163C>G | XP_011542941.1:n.-163C>G | |
| XM_024447265.1:c.-497C>G | XP_024303033.1:n.-497C>G | |
| XR_949470.3:n.139C>G | ||
| XR_949471.3:n.139C>G | ||
| XR_949472.3:n.139C>G | ||
| NM_000553.6:c.-163C>G MANE Select | NP_000544.2:n.-163C>G |