Linked Data
dbSNP Id:
rs916727101
gnomAD v2:
8-30891315-C-T
gnomAD v3:
8-31033799-C-T
gnomAD v4:
8-31033799-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033799C>T , CM000670.2:g.31033799C>T | GRCh38 |
| NC_000008.10:g.30891315C>T , CM000670.1:g.30891315C>T | GRCh37 |
| NC_000008.9:g.31010857C>T | NCBI36 |
| NG_008870.1:g.5538C>T , LRG_524:g.5538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650667.1:c.-251C>T | ENSP00000498593.1:n.-251C>T | |
| NM_000553.4:c.-251C>T , LRG_524t1:c.-251C>T | NP_000544.2:n.-251C>T | |
| XM_011544639.1:c.-251C>T | XP_011542941.1:n.-251C>T | |
| XR_949470.1:n.23C>T | ||
| XR_949471.1:n.23C>T | ||
| XR_949472.1:n.23C>T | ||
| NM_000553.5:c.-251C>T | NP_000544.2:n.-251C>T | |
| XM_011544639.3:c.-251C>T | XP_011542941.1:n.-251C>T | |
| XM_024447265.1:c.-585C>T | XP_024303033.1:n.-585C>T | |
| XR_949470.3:n.51C>T | ||
| XR_949471.3:n.51C>T | ||
| XR_949472.3:n.51C>T |