Linked Data
ClinVar Variation Id:
293734
ClinVar RCV Id:
RCV000356098
dbSNP Id:
rs758796005
ExAC:
1:172628619 C / T
gnomAD v2:
1-172628619-C-T
gnomAD v3:
1-172659479-C-T
gnomAD v4:
1-172659479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172659479C>T , CM000663.2:g.172659479C>T | GRCh38 |
| NC_000001.10:g.172628619C>T , CM000663.1:g.172628619C>T | GRCh37 |
| NC_000001.9:g.170895242C>T | NCBI36 |
| NG_007269.1:g.5435C>T , LRG_58:g.5435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.278C>T MANE Select | ENSP00000356694.2:p.Ala93Val | |
| ENST00000340030.4:c.278C>T | ENSP00000344739.3:p.Ala93Val | |
| ENST00000367721.2:c.278C>T | ENSP00000356694.2:p.Ala93Val | |
| NM_000639.2:c.278C>T | NP_000630.1:p.Ala93Val | |
| NM_001302746.1:c.278C>T | NP_001289675.1:p.Ala93Val | |
| NM_000639.3:c.278C>T MANE Select | NP_000630.1:p.Ala93Val | |
| NM_001302746.2:c.278C>T | NP_001289675.1:p.Ala93Val |