Linked Data
ClinVar Variation Id:
342745
ClinVar RCV Id:
RCV000293214
dbSNP Id:
rs750428921
ExAC:
3:120365196 G / C
gnomAD v2:
3-120365196-G-C
gnomAD v3:
3-120646349-G-C
gnomAD v4:
3-120646349-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120646349G>C , CM000665.2:g.120646349G>C | GRCh38 |
| NC_000003.11:g.120365196G>C , CM000665.1:g.120365196G>C | GRCh37 |
| NC_000003.10:g.121847886G>C | NCBI36 |
| NG_011957.1:g.41133C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.567C>G MANE Select | ENSP00000283871.5:p.Ser189Arg | |
| ENST00000283871.9:c.567C>G | ENSP00000283871.5:p.Ser189Arg | |
| ENST00000475447.2:c.98C>G | ||
| ENST00000492108.5:c.180+624C>G | ENSP00000419838.1:n.180+624C>G | |
| NM_000187.3:c.567C>G | NP_000178.2:p.Ser189Arg | |
| XM_005247412.1:c.549+624C>G | XP_005247469.1:n.549+624C>G | |
| XM_005247413.1:c.567C>G | XP_005247470.1:p.Ser189Arg | |
| XM_005247414.3:c.567C>G | XP_005247471.1:p.Ser189Arg | |
| XM_011512746.1:c.567C>G | XP_011511048.1:p.Ser189Arg | |
| XM_005247412.2:c.549+624C>G | XP_005247469.1:n.549+624C>G | |
| XM_005247413.2:c.567C>G | XP_005247470.1:p.Ser189Arg | |
| XM_005247414.5:c.567C>G | XP_005247471.1:p.Ser189Arg | |
| XM_011512746.2:c.567C>G | XP_011511048.1:p.Ser189Arg | |
| XM_017006277.2:c.144C>G | XP_016861766.1:p.Ser48Arg | |
| NM_000187.4:c.567C>G MANE Select | NP_000178.2:p.Ser189Arg |