Linked Data
ClinVar Variation Id:
1896747
ClinVar RCV Id:
RCV002575974
dbSNP Id:
rs761690976
ExAC:
19:48922849 C / T
gnomAD v2:
19-48922849-C-T
gnomAD v3:
19-48419592-C-T
gnomAD v4:
19-48419592-C-T
COSMIC:
COSM5343377
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419592C>T , CM000681.2:g.48419592C>T | GRCh38 |
| NC_000019.9:g.48922849C>T , CM000681.1:g.48922849C>T | GRCh37 |
| NC_000019.8:g.53614661C>T | NCBI36 |
| NG_052829.1:g.29718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263269.4:c.1869C>T MANE Select | ENSP00000263269.2:p.Gly623= | |
| ENST00000263269.3:c.1869C>T | ENSP00000263269.2:p.Gly623= | |
| NM_000836.2:c.1869C>T | NP_000827.2:p.Gly623= | |
| XM_011526872.1:c.1869C>T | XP_011525174.1:p.Gly623= | |
| NM_000836.4:c.1869C>T MANE Select | NP_000827.2:p.Gly623= |