Linked Data
dbSNP Id:
rs769984410
ExAC:
5:52942101 A / G
gnomAD v2:
5-52942101-A-G
gnomAD v3:
5-53646271-A-G
gnomAD v4:
5-53646271-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53646271A>G , CM000667.2:g.53646271A>G | GRCh38 |
| NC_000005.9:g.52942101A>G , CM000667.1:g.52942101A>G | GRCh37 |
| NC_000005.8:g.52977858A>G | NCBI36 |
| NG_008200.1:g.90637A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.216A>G MANE Select | ENSP00000296684.5:p.Ile72Met | |
| ENST00000296684.9:c.216A>G | ENSP00000296684.5:p.Ile72Met | |
| ENST00000502423.5:c.*83A>G | ENSP00000422177.1:n.*83A>G | |
| ENST00000506765.1:c.204A>G | ENSP00000424570.1:p.Ile68Met | |
| ENST00000506974.5:c.388A>G | ENSP00000425967.1:p.Lys130Glu | |
| ENST00000507026.5:c.*190A>G | ENSP00000424993.1:n.*190A>G | |
| ENST00000509443.1:n.77A>G | ||
| NM_002495.2:c.216A>G | NP_002486.1:p.Ile72Met | |
| XM_005248525.3:c.216A>G | XP_005248582.1:p.Ile72Met | |
| XM_011543415.1:c.42A>G | XP_011541717.1:p.Ile14Met | |
| NM_001318051.1:c.216A>G | NP_001304980.1:p.Ile72Met | |
| NM_002495.3:c.216A>G | NP_002486.1:p.Ile72Met | |
| NR_134473.1:n.418A>G | ||
| NR_134474.1:n.335A>G | ||
| NR_134475.1:n.370A>G | ||
| NM_002495.4:c.216A>G MANE Select | NP_002486.1:p.Ile72Met | |
| NM_001318051.2:c.216A>G | NP_001304980.1:p.Ile72Met | |
| NR_134473.2:n.412A>G | ||
| NR_134474.2:n.329A>G | ||
| NR_134475.2:n.364A>G |