Linked Data
ClinVar Variation Id:
1921948
ClinVar RCV Id:
RCV002613419
dbSNP Id:
rs1230028580
gnomAD v2:
10-74234897-T-C
gnomAD v4:
10-72475139-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72475139T>C , CM000672.2:g.72475139T>C | GRCh38 |
| NC_000010.10:g.74234897T>C , CM000672.1:g.74234897T>C | GRCh37 |
| NC_000010.9:g.73904903T>C | NCBI36 |
| NG_033179.1:g.156053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361114.10:c.894A>G MANE Select | ENSP00000354415.5:p.Glu298= | |
| ENST00000642044.1:c.912A>G | ENSP00000493232.1:p.Glu304= | |
| ENST00000361114.9:c.894A>G | ENSP00000354415.5:p.Glu298= | |
| ENST00000398761.8:c.900A>G | ENSP00000381745.5:p.Glu300= | |
| ENST00000398763.8:c.300A>G | ENSP00000381747.4:p.Glu100= | |
| ENST00000418483.6:c.300A>G | ENSP00000402470.2:p.Glu100= | |
| ENST00000476605.7:c.421A>G | ||
| ENST00000489666.2:c.300A>G | ENSP00000474809.1:p.Glu100= | |
| ENST00000635239.1:c.906A>G | ENSP00000489563.1:p.Glu302= | |
| NM_001195518.1:c.894A>G | NP_001182447.1:p.Glu298= | |
| NM_001195519.1:c.300A>G | NP_001182448.1:p.Glu100= | |
| NM_006077.3:c.900A>G | NP_006068.2:p.Glu300= | |
| XM_005269383.1:c.912A>G | XP_005269440.1:p.Glu304= | |
| XM_005269384.1:c.906A>G | XP_005269441.1:p.Glu302= | |
| XM_005269386.1:c.210A>G | XP_005269443.1:p.Glu70= | |
| XM_011539119.1:c.1062A>G | XP_011537421.1:p.Glu354= | |
| XR_945585.1:n.1149A>G | ||
| XR_945586.1:n.981A>G | ||
| NM_001363513.1:c.912A>G | NP_001350442.1:p.Glu304= | |
| XM_005269386.2:c.210A>G | XP_005269443.1:p.Glu70= | |
| XR_001746993.2:n.1150A>G | ||
| XR_001746994.2:n.988A>G | ||
| XR_945586.2:n.982A>G | ||
| NM_001195518.2:c.894A>G MANE Select | NP_001182447.1:p.Glu298= | |
| NM_001195519.2:c.300A>G | NP_001182448.1:p.Glu100= | |
| NM_001363513.2:c.912A>G | NP_001350442.1:p.Glu304= | |
| NM_006077.4:c.900A>G | NP_006068.2:p.Glu300= |