Linked Data
ClinVar Variation Id:
344380
dbSNP Id:
rs186864205
ExAC:
3:189456542 G / A
gnomAD v2:
3-189456542-G-A
gnomAD v3:
3-189738753-G-A
gnomAD v4:
3-189738753-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189738753G>A , CM000665.2:g.189738753G>A | GRCh38 |
| NC_000003.11:g.189456542G>A , CM000665.1:g.189456542G>A | GRCh37 |
| NC_000003.10:g.190939236G>A | NCBI36 |
| NG_007550.1:g.112327G>A | |
| NG_007550.2:g.112327G>A | |
| NG_007550.3:g.147008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.303G>A MANE Select | ENSP00000264731.3:p.Ser101= | |
| ENST00000264731.7:c.303G>A | ENSP00000264731.3:p.Ser101= | |
| ENST00000320472.9:c.303G>A | ENSP00000317510.5:p.Ser101= | |
| ENST00000392460.7:c.303G>A | ENSP00000376253.3:p.Ser101= | |
| ENST00000418709.6:c.303G>A | ENSP00000407144.2:p.Ser101= | |
| ENST00000440651.6:c.303G>A | ENSP00000394337.2:p.Ser101= | |
| ENST00000486398.1:n.403G>A | ||
| NM_001114978.1:c.303G>A | NP_001108450.1:p.Ser101= | |
| NM_001114979.1:c.303G>A | NP_001108451.1:p.Ser101= | |
| NM_003722.4:c.303G>A | NP_003713.3:p.Ser101= | |
| XM_005247843.2:c.303G>A | XP_005247900.1:p.Ser101= | |
| XM_005247844.3:c.252G>A | XP_005247901.1:p.Ser84= | |
| XM_005247846.2:c.303G>A | XP_005247903.1:p.Ser101= | |
| XM_011513251.1:c.300G>A | XP_011511553.1:p.Ser100= | |
| XM_011513252.1:c.297G>A | XP_011511554.1:p.Ser99= | |
| XM_011513253.1:c.264G>A | XP_011511555.1:p.Ser88= | |
| NM_001329144.1:c.303G>A | NP_001316073.1:p.Ser101= | |
| NM_001329148.1:c.303G>A | NP_001316077.1:p.Ser101= | |
| NM_001329964.1:c.297G>A | NP_001316893.1:p.Ser99= | |
| NM_003722.5:c.303G>A MANE Select | NP_003713.3:p.Ser101= | |
| NM_001114978.2:c.303G>A | NP_001108450.1:p.Ser101= | |
| NM_001114979.2:c.303G>A | NP_001108451.1:p.Ser101= | |
| NM_001329144.2:c.303G>A | NP_001316073.1:p.Ser101= | |
| NM_001329148.2:c.303G>A | NP_001316077.1:p.Ser101= | |
| NM_001329964.2:c.297G>A | NP_001316893.1:p.Ser99= |