Linked Data
ClinVar Variation Id:
330072
dbSNP Id:
rs73937614
ExAC:
19:54410114 A / G
gnomAD v2:
19-54410114-A-G
gnomAD v3:
19-53906860-A-G
gnomAD v4:
19-53906860-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53906860A>G , CM000681.2:g.53906860A>G | GRCh38 |
| NC_000019.9:g.54410114A>G , CM000681.1:g.54410114A>G | GRCh37 |
| NC_000019.8:g.59101926A>G | NCBI36 |
| NG_009114.1:g.29648A>G , LRG_669:g.29648A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.2059A>G | ENSP00000507230.1:p.Ser687Gly | |
| ENST00000682676.1:n.1460A>G | ||
| ENST00000683513.1:c.1951A>G | ENSP00000506809.1:p.Ser651Gly | |
| ENST00000263431.4:c.2059A>G MANE Select | ENSP00000263431.3:p.Ser687Gly | |
| ENST00000263431.3:c.2059A>G | ENSP00000263431.3:p.Ser687Gly | |
| NM_001316329.1:c.2059A>G | NP_001303258.1:p.Ser687Gly | |
| NM_002739.3:c.2059A>G , LRG_669t1:c.2059A>G | NP_002730.1:p.Ser687Gly | |
| NM_002739.4:c.2059A>G | NP_002730.1:p.Ser687Gly | |
| XM_011527108.1:c.1150A>G | XP_011525410.1:p.Ser384Gly | |
| NM_002739.5:c.2059A>G MANE Select | NP_002730.1:p.Ser687Gly | |
| NM_001316329.2:c.2059A>G | NP_001303258.1:p.Ser687Gly |