Linked Data
dbSNP Id:
rs752032370
ExAC:
5:52856538 C / G
gnomAD v2:
5-52856538-C-G
gnomAD v4:
5-53560708-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53560708C>G , CM000667.2:g.53560708C>G | GRCh38 |
| NC_000005.9:g.52856538C>G , CM000667.1:g.52856538C>G | GRCh37 |
| NC_000005.8:g.52892295C>G | NCBI36 |
| NG_008200.1:g.5074C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.46C>G MANE Select | ENSP00000296684.5:p.Arg16Gly | |
| ENST00000296684.9:c.46C>G | ENSP00000296684.5:p.Arg16Gly | |
| ENST00000502423.5:c.46C>G | ENSP00000422177.1:p.Arg16Gly | |
| ENST00000506765.1:c.34C>G | ENSP00000424570.1:p.Arg12Gly | |
| ENST00000506974.5:c.46C>G | ENSP00000425967.1:p.Arg16Gly | |
| ENST00000507026.5:c.46C>G | ENSP00000424993.1:p.Arg16Gly | |
| NM_002495.2:c.46C>G | NP_002486.1:p.Arg16Gly | |
| XM_005248525.3:c.46C>G | XP_005248582.1:p.Arg16Gly | |
| XM_011543414.1:c.46C>G | XP_011541716.1:p.Arg16Gly | |
| NM_001318051.1:c.46C>G | NP_001304980.1:p.Arg16Gly | |
| NM_002495.3:c.46C>G | NP_002486.1:p.Arg16Gly | |
| NR_134473.1:n.76C>G | ||
| NR_134474.1:n.76C>G | ||
| NR_134475.1:n.76C>G | ||
| XM_017009491.1:c.46C>G | XP_016864980.1:p.Arg16Gly | |
| NM_002495.4:c.46C>G MANE Select | NP_002486.1:p.Arg16Gly | |
| NM_001318051.2:c.46C>G | NP_001304980.1:p.Arg16Gly | |
| NR_134473.2:n.70C>G | ||
| NR_134474.2:n.70C>G | ||
| NR_134475.2:n.70C>G |