Linked Data
ClinVar Variation Id:
1366965
ClinVar RCV Id:
RCV001944931
dbSNP Id:
rs767516095
ExAC:
8:30924645 A / G
gnomAD v2:
8-30924645-A-G
gnomAD v4:
8-31067129-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067129A>G , CM000670.2:g.31067129A>G | GRCh38 |
| NC_000008.10:g.30924645A>G , CM000670.1:g.30924645A>G | GRCh37 |
| NC_000008.9:g.31044187A>G | NCBI36 |
| NG_008870.1:g.38868A>G , LRG_524:g.38868A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.601A>G MANE Select | ENSP00000298139.5:p.Ser201Gly | |
| ENST00000650667.1:c.*215A>G | ENSP00000498593.1:n.*215A>G | |
| ENST00000298139.5:c.601A>G | ENSP00000298139.5:p.Ser201Gly | |
| NM_000553.4:c.601A>G , LRG_524t1:c.601A>G | NP_000544.2:p.Ser201Gly | |
| XM_011544639.1:c.601A>G | XP_011542941.1:p.Ser201Gly | |
| XR_949470.1:n.874A>G | ||
| XR_949471.1:n.874A>G | ||
| XR_949472.1:n.874A>G | ||
| NM_000553.5:c.601A>G | NP_000544.2:p.Ser201Gly | |
| XM_011544639.3:c.601A>G | XP_011542941.1:p.Ser201Gly | |
| XM_024447265.1:c.391A>G | XP_024303033.1:p.Ser131Gly | |
| XR_949470.3:n.902A>G | ||
| XR_949471.3:n.902A>G | ||
| XR_949472.3:n.902A>G | ||
| NM_000553.6:c.601A>G MANE Select | NP_000544.2:p.Ser201Gly |