Linked Data
ClinVar Variation Id:
2066517
ClinVar RCV Id:
RCV002934060
dbSNP Id:
rs1178407759
gnomAD v2:
10-121436603-A-G
gnomAD v3:
10-119677091-A-G
gnomAD v4:
10-119677091-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119677091A>G , CM000672.2:g.119677091A>G | GRCh38 |
| NC_000010.10:g.121436603A>G , CM000672.1:g.121436603A>G | GRCh37 |
| NC_000010.9:g.121426593A>G | NCBI36 |
| NG_016125.1:g.30722A>G , LRG_742:g.30722A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.1537A>G MANE Select | ENSP00000358081.4:p.Ser513Gly | |
| ENST00000369085.7:c.1537A>G | ENSP00000358081.3:p.Ser513Gly | |
| NM_004281.3:c.1537A>G , LRG_742t1:c.1537A>G | NP_004272.2:p.Ser513Gly | |
| XM_005270287.1:c.1534A>G | XP_005270344.1:p.Ser512Gly | |
| XM_005270287.2:c.1534A>G | XP_005270344.1:p.Ser512Gly | |
| NM_004281.4:c.1537A>G MANE Select | NP_004272.2:p.Ser513Gly |