Linked Data
ClinVar Variation Id:
2563492
ClinVar RCV Id:
RCV003301653
dbSNP Id:
rs758952048
ExAC:
5:52942144 A / G
gnomAD v2:
5-52942144-A-G
gnomAD v3:
5-53646314-A-G
gnomAD v4:
5-53646314-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53646314A>G , CM000667.2:g.53646314A>G | GRCh38 |
| NC_000005.9:g.52942144A>G , CM000667.1:g.52942144A>G | GRCh37 |
| NC_000005.8:g.52977901A>G | NCBI36 |
| NG_008200.1:g.90680A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.259A>G MANE Select | ENSP00000296684.5:p.Met87Val | |
| ENST00000296684.9:c.259A>G | ENSP00000296684.5:p.Met87Val | |
| ENST00000502423.5:c.*126A>G | ENSP00000422177.1:n.*126A>G | |
| ENST00000506765.1:c.247A>G | ENSP00000424570.1:p.Met83Val | |
| ENST00000506974.5:c.*35A>G | ENSP00000425967.1:n.*35A>G | |
| ENST00000507026.5:c.*233A>G | ENSP00000424993.1:n.*233A>G | |
| ENST00000509443.1:n.120A>G | ||
| NM_002495.2:c.259A>G | NP_002486.1:p.Met87Val | |
| XM_005248525.3:c.259A>G | XP_005248582.1:p.Met87Val | |
| XM_011543415.1:c.85A>G | XP_011541717.1:p.Met29Val | |
| NM_001318051.1:c.259A>G | NP_001304980.1:p.Met87Val | |
| NM_002495.3:c.259A>G | NP_002486.1:p.Met87Val | |
| NR_134473.1:n.461A>G | ||
| NR_134474.1:n.378A>G | ||
| NR_134475.1:n.413A>G | ||
| NM_002495.4:c.259A>G MANE Select | NP_002486.1:p.Met87Val | |
| NM_001318051.2:c.259A>G | NP_001304980.1:p.Met87Val | |
| NR_134473.2:n.455A>G | ||
| NR_134474.2:n.372A>G | ||
| NR_134475.2:n.407A>G |