Linked Data
dbSNP Id:
rs767959341
ExAC:
10:81316988 G / C
gnomAD v2:
10-81316988-G-C
gnomAD v3:
10-79557232-G-C
gnomAD v4:
10-79557232-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79557232G>C , CM000672.2:g.79557232G>C | GRCh38 |
| NC_000010.10:g.81316988G>C , CM000672.1:g.81316988G>C | GRCh37 |
| NG_013046.1:g.8176C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372325.7:c.724C>G MANE Select | ENSP00000361400.2:p.Arg242Gly | |
| ENST00000372325.6:c.724C>G | ENSP00000361400.2:p.Arg242Gly | |
| ENST00000372327.9:c.724C>G | ENSP00000361402.5:p.Arg242Gly | |
| NM_001098668.2:c.724C>G | NP_001092138.1:p.Arg242Gly | |
| XM_005270128.2:c.775C>G | XP_005270185.1:p.Arg259Gly | |
| XM_005270131.3:c.724C>G | XP_005270188.1:p.Arg242Gly | |
| XM_005270132.3:c.724C>G | XP_005270189.1:p.Arg242Gly | |
| XM_011540124.1:c.724C>G | XP_011538426.1:p.Arg242Gly | |
| XM_011540125.1:c.724C>G | XP_011538427.1:p.Arg242Gly | |
| NM_001098668.3:c.724C>G | NP_001092138.1:p.Arg242Gly | |
| NM_001320813.1:c.724C>G | NP_001307742.1:p.Arg242Gly | |
| NM_001320814.1:c.754C>G | NP_001307743.1:p.Arg252Gly | |
| XM_005270128.3:c.775C>G | XP_005270185.1:p.Arg259Gly | |
| XM_017016608.1:c.724C>G | XP_016872097.1:p.Arg242Gly | |
| NM_001098668.4:c.724C>G MANE Select | NP_001092138.1:p.Arg242Gly | |
| NM_001320813.2:c.724C>G | NP_001307742.1:p.Arg242Gly |