Linked Data
ClinVar Variation Id:
2420914
ClinVar RCV Id:
RCV003122079
dbSNP Id:
rs201891353
ExAC:
6:1610995 C / T
gnomAD v2:
6-1610995-C-T
gnomAD v3:
6-1610760-C-T
gnomAD v4:
6-1610760-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610760C>T , CM000668.2:g.1610760C>T | GRCh38 |
| NC_000006.11:g.1610995C>T , CM000668.1:g.1610995C>T | GRCh37 |
| NC_000006.10:g.1555994C>T | NCBI36 |
| NG_009368.1:g.5315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.315C>T MANE Select | ENSP00000493906.1:p.Tyr105= | |
| ENST00000380874.3:c.315C>T | ENSP00000370256.2:p.Tyr105= | |
| NM_001453.2:c.315C>T | NP_001444.2:p.Tyr105= | |
| NM_001453.3:c.315C>T MANE Select | NP_001444.2:p.Tyr105= |