Linked Data
ClinVar Variation Id:
1559461
ClinVar RCV Id:
RCV002202865
dbSNP Id:
rs2130050128
gnomAD v4:
8-31067122-C-T
MyVariant Identifiers:
chr8:g.30924638C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067122C>T , CM000670.2:g.31067122C>T | GRCh38 |
| NC_000008.10:g.30924638C>T , CM000670.1:g.30924638C>T | GRCh37 |
| NC_000008.9:g.31044180C>T | NCBI36 |
| NG_008870.1:g.38861C>T , LRG_524:g.38861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.594C>T MANE Select | ENSP00000298139.5:p.Ser198= | |
| ENST00000650667.1:c.*208C>T | ENSP00000498593.1:n.*208C>T | |
| ENST00000298139.5:c.594C>T | ENSP00000298139.5:p.Ser198= | |
| NM_000553.4:c.594C>T , LRG_524t1:c.594C>T | NP_000544.2:p.Ser198= | |
| XM_011544639.1:c.594C>T | XP_011542941.1:p.Ser198= | |
| XR_949470.1:n.867C>T | ||
| XR_949471.1:n.867C>T | ||
| XR_949472.1:n.867C>T | ||
| NM_000553.5:c.594C>T | NP_000544.2:p.Ser198= | |
| XM_011544639.3:c.594C>T | XP_011542941.1:p.Ser198= | |
| XM_024447265.1:c.384C>T | XP_024303033.1:p.Ser128= | |
| XR_949470.3:n.895C>T | ||
| XR_949471.3:n.895C>T | ||
| XR_949472.3:n.895C>T | ||
| NM_000553.6:c.594C>T MANE Select | NP_000544.2:p.Ser198= |