Linked Data
ClinVar Variation Id:
2547784
ClinVar RCV Id:
RCV003257870
dbSNP Id:
rs773696820
ExAC:
1:168262493 G / A
gnomAD v2:
1-168262493-G-A
gnomAD v4:
1-168293255-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293255G>A , CM000663.2:g.168293255G>A | GRCh38 |
| NC_000001.10:g.168262493G>A , CM000663.1:g.168262493G>A | GRCh37 |
| NC_000001.9:g.166529117G>A | NCBI36 |
| NG_008244.1:g.17216G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.580G>A MANE Select | ENSP00000356795.3:p.Val194Met | |
| ENST00000367821.7:c.580G>A | ENSP00000356795.3:p.Val194Met | |
| ENST00000431969.5:c.377G>A | ||
| NM_005149.2:c.580G>A | NP_005140.1:p.Val194Met | |
| NM_005149.3:c.580G>A MANE Select | NP_005140.1:p.Val194Met |