Linked Data
ClinVar Variation Id:
500576
ClinVar RCV Id:
RCV000591914
dbSNP Id:
rs879731883
gnomAD v2:
3-184910881-C-T
gnomAD v4:
3-185193093-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185193093C>T , CM000665.2:g.185193093C>T | GRCh38 |
| NC_000003.11:g.184910881C>T , CM000665.1:g.184910881C>T | GRCh37 |
| NC_000003.10:g.186393575C>T | NCBI36 |
| NG_015999.1:g.66006G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.1305G>A MANE Select | ENSP00000231887.3:p.Ser435= | |
| ENST00000231887.7:c.1305G>A | ENSP00000231887.3:p.Ser435= | |
| ENST00000456310.5:c.1017G>A | ENSP00000387746.1:p.Ser339= | |
| NM_001166415.1:c.1017G>A | NP_001159887.1:p.Ser339= | |
| NM_001966.3:c.1305G>A | NP_001957.2:p.Ser435= | |
| XM_006713525.1:c.681G>A | XP_006713588.1:p.Ser227= | |
| XM_011512517.1:c.1017G>A | XP_011510819.1:p.Ser339= | |
| NM_001966.4:c.1305G>A MANE Select | NP_001957.2:p.Ser435= | |
| NM_001166415.2:c.1017G>A | NP_001159887.1:p.Ser339= |