Linked Data
ClinVar Variation Id:
626961
ClinVar RCV Id:
RCV000851645
dbSNP Id:
rs1571598694
gnomAD v4:
1-169572236-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169572236T>C , CM000663.2:g.169572236T>C | GRCh38 |
| NC_000001.10:g.169541474T>C , CM000663.1:g.169541474T>C | GRCh37 |
| NC_000001.9:g.167808098T>C | NCBI36 |
| NG_011806.1:g.19296A>G , LRG_553:g.19296A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.358A>G MANE Select | ENSP00000356771.3:p.Ser120Gly | |
| ENST00000367796.3:c.358A>G | ENSP00000356770.3:p.Ser120Gly | |
| ENST00000367797.7:c.358A>G | ENSP00000356771.3:p.Ser120Gly | |
| NM_000130.4:c.358A>G , LRG_553t1:c.358A>G | NP_000121.2:p.Ser120Gly | |
| XM_017000660.2:c.-54A>G | XP_016856149.1:n.-54A>G | |
| NM_000130.5:c.358A>G MANE Select | NP_000121.2:p.Ser120Gly |