Linked Data
ClinVar Variation Id:
1044466
ClinVar RCV Id:
RCV001348711
dbSNP Id:
rs369933955
ExAC:
19:45867372 T / C
gnomAD v2:
19-45867372-T-C
gnomAD v3:
19-45364114-T-C
gnomAD v4:
19-45364114-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45364114T>C , CM000681.2:g.45364114T>C | GRCh38 |
| NC_000019.9:g.45867372T>C , CM000681.1:g.45867372T>C | GRCh37 |
| NC_000019.8:g.50559212T>C | NCBI36 |
| NG_007067.2:g.11474A>G , LRG_461:g.11474A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.821A>G | ENSP00000375808.4:p.Lys274Arg | |
| ENST00000682414.1:c.821A>G | ENSP00000507019.1:p.Lys274Arg | |
| ENST00000682508.1:n.850A>G | ||
| ENST00000684218.1:c.*79A>G | ENSP00000507804.1:n.*79A>G | |
| ENST00000684407.1:c.698A>G | ENSP00000507775.1:p.Lys233Arg | |
| ENST00000684458.1:c.821A>G | ENSP00000508260.1:p.Lys274Arg | |
| ENST00000391945.10:c.821A>G MANE Select | ENSP00000375809.4:p.Lys274Arg | |
| ENST00000586131.6:c.749A>G | ENSP00000464887.1:p.Lys250Arg | |
| ENST00000646507.1:n.918A>G | ||
| ENST00000391941.6:c.749A>G | ENSP00000375805.2:p.Lys250Arg | |
| ENST00000391944.7:c.587A>G | ENSP00000375808.3:p.Lys196Arg | |
| ENST00000391945.8:c.821A>G | ENSP00000375809.3:p.Lys274Arg | |
| ENST00000485403.6:c.749A>G | ENSP00000431229.2:p.Lys250Arg | |
| ENST00000586131.5:c.749A>G | ENSP00000464887.1:p.Lys250Arg | |
| ENST00000586737.5:n.458A>G | ||
| ENST00000591309.5:c.*79A>G | ENSP00000465207.1:n.*79A>G | |
| NM_000400.3:c.821A>G , LRG_461t1:c.821A>G | NP_000391.1:p.Lys274Arg | |
| NM_001130867.1:c.749A>G | NP_001124339.1:p.Lys250Arg | |
| XM_011526611.1:c.743A>G | XP_011524913.1:p.Lys248Arg | |
| XR_935763.1:n.868A>G | ||
| XM_011526611.2:c.743A>G | XP_011524913.1:p.Lys248Arg | |
| XM_017026467.1:c.698A>G | XP_016881956.1:p.Lys233Arg | |
| XR_001753633.2:n.868A>G | ||
| XR_001753634.2:n.868A>G | ||
| NM_000400.4:c.821A>G MANE Select | NP_000391.1:p.Lys274Arg | |
| NM_001130867.2:c.749A>G | NP_001124339.1:p.Lys250Arg |