Linked Data
ClinVar Variation Id:
1984435
ClinVar RCV Id:
RCV002775504
dbSNP Id:
rs769371302
ExAC:
10:50669619 T / C
gnomAD v2:
10-50669619-T-C
gnomAD v3:
10-49461573-T-C
gnomAD v4:
10-49461573-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461573T>C , CM000672.2:g.49461573T>C | GRCh38 |
| NC_000010.10:g.50669619T>C , CM000672.1:g.50669619T>C | GRCh37 |
| NC_000010.9:g.50339625T>C | NCBI36 |
| NG_009442.1:g.82529A>G , LRG_465:g.82529A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3779-17A>G MANE Select | ENSP00000348089.5:n.3779-17A>G | |
| ENST00000679552.1:n.850-17A>G | ||
| ENST00000679871.1:n.925-17A>G | ||
| ENST00000679974.1:n.828-17A>G | ||
| ENST00000681632.1:n.5182-17A>G | ||
| ENST00000681659.1:c.3620-17A>G | ENSP00000505631.1:n.3620-17A>G | |
| ENST00000355832.9:c.3779-17A>G | ENSP00000348089.5:n.3779-17A>G | |
| ENST00000465653.1:n.101-17A>G | ||
| ENST00000623073.3:c.*2075-17A>G | ENSP00000485650.1:n.*2075-17A>G | |
| ENST00000623115.3:c.1889-17A>G | ENSP00000485321.1:n.1889-17A>G | |
| ENST00000624341.3:c.1611-17A>G | ||
| NM_000124.3:c.3779-17A>G | NP_000115.1:n.3779-17A>G | |
| XR_945953.1:n.243-9992T>C | ||
| NM_001346440.1:c.3779-17A>G | NP_001333369.1:n.3779-17A>G | |
| NM_000124.4:c.3779-17A>G MANE Select | NP_000115.1:n.3779-17A>G | |
| NM_001346440.2:c.3779-17A>G | NP_001333369.1:n.3779-17A>G |