Linked Data
ClinVar Variation Id:
129700
dbSNP Id:
rs31304
ExAC:
5:52942083 A / C
gnomAD v2:
5-52942083-A-C
gnomAD v3:
5-53646253-A-C
gnomAD v4:
5-53646253-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53646253A>C , CM000667.2:g.53646253A>C | GRCh38 |
| NC_000005.9:g.52942083A>C , CM000667.1:g.52942083A>C | GRCh37 |
| NC_000005.8:g.52977840A>C | NCBI36 |
| NG_008200.1:g.90619A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.198A>C MANE Select | ENSP00000296684.5:p.Gly66= | |
| ENST00000296684.9:c.198A>C | ENSP00000296684.5:p.Gly66= | |
| ENST00000502423.5:c.*65A>C | ENSP00000422177.1:n.*65A>C | |
| ENST00000506765.1:c.186A>C | ENSP00000424570.1:p.Gly62= | |
| ENST00000506974.5:c.370A>C | ENSP00000425967.1:p.Ser124Arg | |
| ENST00000507026.5:c.*172A>C | ENSP00000424993.1:n.*172A>C | |
| ENST00000509443.1:n.59A>C | ||
| NM_002495.2:c.198A>C | NP_002486.1:p.Gly66= | |
| XM_005248525.3:c.198A>C | XP_005248582.1:p.Gly66= | |
| XM_011543415.1:c.24A>C | XP_011541717.1:p.Gly8= | |
| NM_001318051.1:c.198A>C | NP_001304980.1:p.Gly66= | |
| NM_002495.3:c.198A>C | NP_002486.1:p.Gly66= | |
| NR_134473.1:n.400A>C | ||
| NR_134474.1:n.317A>C | ||
| NR_134475.1:n.352A>C | ||
| NM_002495.4:c.198A>C MANE Select | NP_002486.1:p.Gly66= | |
| NM_001318051.2:c.198A>C | NP_001304980.1:p.Gly66= | |
| NR_134473.2:n.394A>C | ||
| NR_134474.2:n.311A>C | ||
| NR_134475.2:n.346A>C |