Linked Data
ClinVar Variation Id:
393219
ClinVar RCV Id:
RCV000423584
dbSNP Id:
rs770303583
ExAC:
21:47533959 C / G
gnomAD v3:
21-46114045-C-G
gnomAD v4:
21-46114045-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46114045C>G , CM000683.2:g.46114045C>G | GRCh38 |
| NC_000021.8:g.47533959C>G , CM000683.1:g.47533959C>G | GRCh37 |
| NC_000021.7:g.46358387C>G | NCBI36 |
| NG_008675.1:g.20927C>G , LRG_476:g.20927C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.773C>G MANE Plus Clinical | ENSP00000380870.1:p.Ser258Cys | |
| ENST00000300527.9:c.773C>G MANE Select | ENSP00000300527.4:p.Ser258Cys | |
| ENST00000409416.6:c.773C>G | ENSP00000387115.1:p.Ser258Cys | |
| ENST00000300527.8:c.773C>G | ENSP00000300527.4:p.Ser258Cys | |
| ENST00000310645.9:c.773C>G | ENSP00000312529.5:p.Ser258Cys | |
| ENST00000397763.5:c.773C>G | ENSP00000380870.1:p.Ser258Cys | |
| ENST00000409416.5:c.773C>G | ENSP00000387115.1:p.Ser258Cys | |
| ENST00000485591.1:n.429C>G | ||
| NM_001849.3:c.773C>G , LRG_476t1:c.773C>G | NP_001840.3:p.Ser258Cys | |
| NM_058174.2:c.773C>G | NP_478054.2:p.Ser258Cys | |
| NM_058175.2:c.773C>G | NP_478055.2:p.Ser258Cys | |
| XM_011529451.1:c.773C>G | XP_011527753.1:p.Ser258Cys | |
| XM_011529452.1:c.773C>G | XP_011527754.1:p.Ser258Cys | |
| XR_937438.1:n.896C>G | ||
| XR_937439.1:n.896C>G | ||
| XR_937438.2:n.903C>G | ||
| XR_937439.2:n.903C>G | ||
| NM_001849.4:c.773C>G MANE Select | NP_001840.3:p.Ser258Cys | |
| NM_058174.3:c.773C>G MANE Plus Clinical | NP_478054.2:p.Ser258Cys | |
| NM_058175.3:c.773C>G | NP_478055.2:p.Ser258Cys |