Linked Data
ClinVar Variation Id:
362791
ClinVar RCV Id:
RCV000379868
dbSNP Id:
rs11574159
gnomAD v2:
8-30891369-C-T
gnomAD v3:
8-31033853-C-T
gnomAD v4:
8-31033853-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033853C>T , CM000670.2:g.31033853C>T | GRCh38 |
| NC_000008.10:g.30891369C>T , CM000670.1:g.30891369C>T | GRCh37 |
| NC_000008.9:g.31010911C>T | NCBI36 |
| NG_008870.1:g.5592C>T , LRG_524:g.5592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.-197C>T MANE Select | ENSP00000298139.5:n.-197C>T | |
| ENST00000650667.1:c.-197C>T | ENSP00000498593.1:n.-197C>T | |
| ENST00000298139.5:c.-197C>T | ENSP00000298139.5:n.-197C>T | |
| NM_000553.4:c.-197C>T , LRG_524t1:c.-197C>T | NP_000544.2:n.-197C>T | |
| XM_011544639.1:c.-197C>T | XP_011542941.1:n.-197C>T | |
| XR_949470.1:n.77C>T | ||
| XR_949471.1:n.77C>T | ||
| XR_949472.1:n.77C>T | ||
| NM_000553.5:c.-197C>T | NP_000544.2:n.-197C>T | |
| XM_011544639.3:c.-197C>T | XP_011542941.1:n.-197C>T | |
| XM_024447265.1:c.-531C>T | XP_024303033.1:n.-531C>T | |
| XR_949470.3:n.105C>T | ||
| XR_949471.3:n.105C>T | ||
| XR_949472.3:n.105C>T | ||
| NM_000553.6:c.-197C>T MANE Select | NP_000544.2:n.-197C>T |