Linked Data
ClinVar Variation Id:
1984828
ClinVar RCV Id:
RCV002775695
dbSNP Id:
rs771170194
ExAC:
1:27436185 G / A
gnomAD v2:
1-27436185-G-A
gnomAD v3:
1-27109694-G-A
gnomAD v4:
1-27109694-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27109694G>A , CM000663.2:g.27109694G>A | GRCh38 |
| NC_000001.10:g.27436185G>A , CM000663.1:g.27436185G>A | GRCh37 |
| NC_000001.9:g.27308772G>A | NCBI36 |
| NG_030006.1:g.50267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263980.8:c.897C>T MANE Select | ENSP00000263980.3:p.Phe299= | |
| ENST00000263980.7:c.897C>T | ENSP00000263980.3:p.Phe299= | |
| ENST00000374086.3:c.897C>T | ENSP00000363199.3:p.Phe299= | |
| NM_003047.4:c.897C>T | NP_003038.2:p.Phe299= | |
| NR_046474.1:n.1232C>T | ||
| XM_011542021.1:c.567C>T | XP_011540323.1:p.Phe189= | |
| XM_011542021.3:c.567C>T | XP_011540323.1:p.Phe189= | |
| NM_003047.5:c.897C>T MANE Select | NP_003038.2:p.Phe299= | |
| NR_046474.2:n.1227C>T |