Linked Data
ClinVar Variation Id:
1624977
ClinVar RCV Id:
RCV002106501
dbSNP Id:
rs764547083
ExAC:
3:52485341 G / T
gnomAD v4:
3-52451325-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451325G>T , CM000665.2:g.52451325G>T | GRCh38 |
| NC_000003.11:g.52485341G>T , CM000665.1:g.52485341G>T | GRCh37 |
| NC_000003.10:g.52460381G>T | NCBI36 |
| NG_008963.1:g.7717C>A , LRG_378:g.7717C>A | |
| NG_033112.1:g.818G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.455-19C>A MANE Select | ENSP00000232975.3:n.455-19C>A | |
| ENST00000232975.7:c.455-19C>A | ENSP00000232975.3:n.455-19C>A | |
| NM_003280.2:c.455-19C>A , LRG_378t1:c.455-19C>A | NP_003271.1:n.455-19C>A | |
| NM_003280.3:c.455-19C>A MANE Select | NP_003271.1:n.455-19C>A |