Linked Data
ClinVar Variation Id:
1062126
ClinVar RCV Id:
RCV001371806
dbSNP Id:
rs752362743
ExAC:
2:219925047 G / A
gnomAD v2:
2-219925047-G-A
gnomAD v4:
2-219060325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060325G>A , CM000664.2:g.219060325G>A | GRCh38 |
| NC_000002.11:g.219925047G>A , CM000664.1:g.219925047G>A | GRCh37 |
| NC_000002.10:g.219633291G>A | NCBI36 |
| NG_016741.1:g.5192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.143C>T MANE Select | ENSP00000295731.5:p.Ala48Val | |
| ENST00000295731.6:c.143C>T | ENSP00000295731.5:p.Ala48Val | |
| NM_002181.3:c.143C>T | NP_002172.2:p.Ala48Val | |
| NM_002181.4:c.143C>T MANE Select | NP_002172.2:p.Ala48Val |