Linked Data
ClinVar Variation Id:
874618
ClinVar RCV Id:
RCV001097709
dbSNP Id:
rs763964110
ExAC:
1:155264176 C / A
gnomAD v2:
1-155264176-C-A
gnomAD v3:
1-155294385-C-A
gnomAD v4:
1-155294385-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155294385C>A , CM000663.2:g.155294385C>A | GRCh38 |
| NC_000001.10:g.155264176C>A , CM000663.1:g.155264176C>A | GRCh37 |
| NC_000001.9:g.153530800C>A | NCBI36 |
| NG_011677.1:g.12050G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.966G>T MANE Select | ENSP00000339933.4:p.Arg322Ser | |
| ENST00000342741.4:c.966G>T | ENSP00000339933.4:p.Arg322Ser | |
| ENST00000392414.7:c.873G>T | ENSP00000376214.3:p.Arg291Ser | |
| NM_000298.5:c.966G>T | NP_000289.1:p.Arg322Ser | |
| NM_181871.3:c.873G>T | NP_870986.1:p.Arg291Ser | |
| XM_005245266.3:c.1125G>T | XP_005245323.1:p.Arg375Ser | |
| XM_006711386.2:c.774G>T | XP_006711449.1:p.Arg258Ser | |
| XM_011509639.1:c.1125G>T | XP_011507941.1:p.Arg375Ser | |
| XM_011509640.1:c.774G>T | XP_011507942.1:p.Arg258Ser | |
| NM_000298.6:c.966G>T MANE Select | NP_000289.1:p.Arg322Ser | |
| XM_006711386.4:c.774G>T | XP_006711449.1:p.Arg258Ser | |
| XM_011509640.3:c.774G>T | XP_011507942.1:p.Arg258Ser | |
| XM_017001493.1:c.966G>T | XP_016856982.1:p.Arg322Ser | |
| NM_181871.4:c.873G>T | NP_870986.1:p.Arg291Ser |