Linked Data
ClinVar Variation Id:
346136
ClinVar RCV Id:
RCV000314144
dbSNP Id:
rs886058710
gnomAD v2:
3-53122826-G-C
gnomAD v3:
3-53088810-G-C
gnomAD v4:
3-53088810-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53088810G>C , CM000665.2:g.53088810G>C | GRCh38 |
| NC_000003.11:g.53122826G>C , CM000665.1:g.53122826G>C | GRCh37 |
| NC_000003.10:g.53097866G>C | NCBI36 |
| NG_009203.1:g.46645C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296292.8:c.*3093C>G MANE Select | ENSP00000296292.3:n.*3093C>G | |
| ENST00000296292.7:c.*3093C>G | ENSP00000296292.3:n.*3093C>G | |
| ENST00000607203.1:c.74-2958C>G | ||
| ENST00000607283.5:c.323+3559C>G | ||
| ENST00000607495.5:c.73+10571C>G | ||
| NM_052859.3:c.*3093C>G | NP_443091.1:n.*3093C>G | |
| XM_006713384.2:c.1209-2958C>G | XP_006713447.1:n.1209-2958C>G | |
| XM_011534214.1:c.1208+10571C>G | XP_011532516.1:n.1208+10571C>G | |
| XM_011534215.1:c.1208+10571C>G | XP_011532517.1:n.1208+10571C>G | |
| XM_011534216.1:c.*3093C>G | XP_011532518.1:n.*3093C>G | |
| XR_940507.1:n.1268-2958C>G | ||
| XM_006713384.3:c.1209-2958C>G | XP_006713447.1:n.1209-2958C>G | |
| XM_011534214.2:c.1208+10571C>G | XP_011532516.1:n.1208+10571C>G | |
| XM_011534215.3:c.1208+10571C>G | XP_011532517.1:n.1208+10571C>G | |
| XM_017007460.1:c.1458+3559C>G | XP_016862949.1:n.1458+3559C>G | |
| NM_052859.4:c.*3093C>G MANE Select | NP_443091.1:n.*3093C>G |