Linked Data
ClinVar Variation Id:
3087801
ClinVar RCV Id:
RCV004377634
dbSNP Id:
rs746184892
ExAC:
3:184971738 T / C
gnomAD v2:
3-184971738-T-C
gnomAD v4:
3-185253950-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185253950T>C , CM000665.2:g.185253950T>C | GRCh38 |
| NC_000003.11:g.184971738T>C , CM000665.1:g.184971738T>C | GRCh37 |
| NC_000003.10:g.186454432T>C | NCBI36 |
| NG_015999.1:g.5149A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.73A>G MANE Select | ENSP00000231887.3:p.Ser25Gly | |
| ENST00000231887.7:c.73A>G | ENSP00000231887.3:p.Ser25Gly | |
| ENST00000440662.1:c.73A>G | ENSP00000396798.1:p.Ser25Gly | |
| ENST00000456310.5:c.-339A>G | ENSP00000387746.1:n.-339A>G | |
| ENST00000465178.1:n.228-5433A>G | ||
| ENST00000475987.1:n.100A>G | ||
| NM_001166415.1:c.-339A>G | NP_001159887.1:n.-339A>G | |
| NM_001966.3:c.73A>G | NP_001957.2:p.Ser25Gly | |
| XM_006713525.1:c.-583A>G | XP_006713588.1:n.-583A>G | |
| XM_011512517.1:c.-214-5433A>G | XP_011510819.1:n.-214-5433A>G | |
| NM_001966.4:c.73A>G MANE Select | NP_001957.2:p.Ser25Gly | |
| NM_001166415.2:c.-339A>G | NP_001159887.1:n.-339A>G |