Linked Data
ClinVar Variation Id:
1498952
ClinVar RCV Id:
RCV002010343
dbSNP Id:
rs753847571
ExAC:
1:983706 A / C
gnomAD v2:
1-983706-A-C
gnomAD v3:
1-1048326-A-C
gnomAD v4:
1-1048326-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1048326A>C , CM000663.2:g.1048326A>C | GRCh38 |
| NC_000001.10:g.983706A>C , CM000663.1:g.983706A>C | GRCh37 |
| NC_000001.9:g.973569A>C | NCBI36 |
| NG_016346.1:g.33204A>C , LRG_198:g.33204A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.4066A>C MANE Select | ENSP00000368678.2:p.Ser1356Arg | |
| ENST00000651234.1:c.3751A>C | ENSP00000499046.1:p.Ser1251Arg | |
| ENST00000652369.1:c.3751A>C | ENSP00000498543.1:p.Ser1251Arg | |
| ENST00000379370.6:c.4066A>C | ENSP00000368678.2:p.Ser1356Arg | |
| ENST00000620552.4:c.3652A>C | ENSP00000484607.1:p.Ser1218Arg | |
| NM_001305275.1:c.4066A>C | NP_001292204.1:p.Ser1356Arg | |
| NM_198576.3:c.4066A>C | NP_940978.2:p.Ser1356Arg | |
| XM_005244749.2:c.4066A>C | XP_005244806.1:p.Ser1356Arg | |
| XM_006710635.2:c.4066A>C | XP_006710698.1:p.Ser1356Arg | |
| XM_011541429.1:c.4066A>C | XP_011539731.1:p.Ser1356Arg | |
| XM_011541430.1:c.3193A>C | XP_011539732.1:p.Ser1065Arg | |
| XM_011541431.1:c.2332A>C | XP_011539733.1:p.Ser778Arg | |
| XR_946650.1:n.4133A>C | ||
| NM_001364727.1:c.3751A>C | NP_001351656.1:p.Ser1251Arg | |
| XM_005244749.3:c.4066A>C | XP_005244806.1:p.Ser1356Arg | |
| XM_011541429.2:c.4066A>C | XP_011539731.1:p.Ser1356Arg | |
| XR_946650.2:n.4137A>C | ||
| NM_001305275.2:c.4066A>C | NP_001292204.1:p.Ser1356Arg | |
| NM_198576.4:c.4066A>C MANE Select | NP_940978.2:p.Ser1356Arg | |
| NM_001364727.2:c.3751A>C | NP_001351656.1:p.Ser1251Arg |