Linked Data
ClinVar Variation Id:
2702225
ClinVar RCV Id:
RCV003505785
gnomAD v3:
8-31067021-C-T
gnomAD v4:
8-31067021-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067021C>T , CM000670.2:g.31067021C>T | GRCh38 |
| NC_000008.10:g.30924537C>T , CM000670.1:g.30924537C>T | GRCh37 |
| NC_000008.9:g.31044079C>T | NCBI36 |
| NG_008870.1:g.38760C>T , LRG_524:g.38760C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.505-12C>T MANE Select | ENSP00000298139.5:n.505-12C>T | |
| ENST00000650667.1:c.*119-12C>T | ENSP00000498593.1:n.*119-12C>T | |
| ENST00000298139.5:c.505-12C>T | ENSP00000298139.5:n.505-12C>T | |
| NM_000553.4:c.505-12C>T , LRG_524t1:c.505-12C>T | NP_000544.2:n.505-12C>T | |
| XM_011544639.1:c.505-12C>T | XP_011542941.1:n.505-12C>T | |
| XR_949470.1:n.778-12C>T | ||
| XR_949471.1:n.778-12C>T | ||
| XR_949472.1:n.778-12C>T | ||
| NM_000553.5:c.505-12C>T | NP_000544.2:n.505-12C>T | |
| XM_011544639.3:c.505-12C>T | XP_011542941.1:n.505-12C>T | |
| XM_024447265.1:c.295-12C>T | XP_024303033.1:n.295-12C>T | |
| XR_949470.3:n.806-12C>T | ||
| XR_949471.3:n.806-12C>T | ||
| XR_949472.3:n.806-12C>T | ||
| NM_000553.6:c.505-12C>T MANE Select | NP_000544.2:n.505-12C>T |