Linked Data
ClinVar Variation Id:
300812
ClinVar RCV Id:
RCV002494941
dbSNP Id:
rs879813349
gnomAD v2:
10-75879212-C-T
gnomAD v3:
10-74119454-C-T
gnomAD v4:
10-74119454-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74119454C>T , CM000672.2:g.74119454C>T | GRCh38 |
| NC_000010.10:g.75879212C>T , CM000672.1:g.75879212C>T | GRCh37 |
| NC_000010.9:g.75549218C>T | NCBI36 |
| NG_008868.1:g.126341C>T , LRG_383:g.126341C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000211998.10:c.*1285C>T MANE Select | ENSP00000211998.5:n.*1285C>T | |
| ENST00000211998.8:c.*1285C>T | ENSP00000211998.4:n.*1285C>T | |
| ENST00000372755.7:c.*1285C>T | ENSP00000361841.3:n.*1285C>T | |
| ENST00000436396.1:c.3706C>T | ENSP00000415489.1:n.3706C>T | |
| ENST00000623461.3:n.7289C>T | ||
| NM_003373.3:c.*1285C>T | NP_003364.1:n.*1285C>T | |
| NM_014000.2:c.*1285C>T , LRG_383t1:c.*1285C>T | NP_054706.1:n.*1285C>T | |
| XM_005270142.1:c.*1285C>T | XP_005270199.1:n.*1285C>T | |
| XM_005270143.1:c.*1285C>T | XP_005270200.1:n.*1285C>T | |
| NM_003373.4:c.*1285C>T | NP_003364.1:n.*1285C>T | |
| NM_014000.3:c.*1285C>T MANE Select | NP_054706.1:n.*1285C>T |