Linked Data
ClinVar Variation Id:
495318
ClinVar RCV Id:
RCV000590863
dbSNP Id:
rs1555570093
gnomAD v4:
17-7586699-G-A
PubMed:
PMID:28940310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7586699G>A , CM000679.2:g.7586699G>A | GRCh38 |
| NC_000017.10:g.7490017G>A , CM000679.1:g.7490017G>A | GRCh37 |
| NC_000017.9:g.7430741G>A | NCBI36 |
| NG_009204.1:g.8053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250124.11:c.310G>A MANE Select | ENSP00000250124.6:p.Gly104Ser | |
| ENST00000250124.10:c.310G>A | ENSP00000250124.6:p.Gly104Ser | |
| ENST00000359822.10:c.*119G>A | ENSP00000352876.6:n.*119G>A | |
| ENST00000396501.8:c.310G>A | ENSP00000379758.4:p.Gly104Ser | |
| ENST00000423172.6:c.303-200G>A | ENSP00000414071.2:n.303-200G>A | |
| ENST00000570458.5:c.166G>A | ||
| ENST00000571822.5:c.*119G>A | ENSP00000458741.1:n.*119G>A | |
| ENST00000571877.1:n.231G>A | ||
| ENST00000572719.5:c.*16G>A | ENSP00000459498.1:n.*16G>A | |
| ENST00000572836.5:n.321G>A | ||
| ENST00000572936.5:c.*155G>A | ENSP00000459306.1:n.*155G>A | |
| ENST00000574558.1:c.79G>A | ||
| ENST00000576066.5:c.*119G>A | ENSP00000461183.1:n.*119G>A | |
| ENST00000576272.5:c.283G>A | ||
| ENST00000577088.5:n.321G>A | ||
| ENST00000578267.5:n.320G>A | ||
| ENST00000579445.5:c.310G>A | ENSP00000464158.1:p.Gly104Ser | |
| ENST00000580834.5:c.*16G>A | ENSP00000463056.1:n.*16G>A | |
| ENST00000581380.1:c.280G>A | ENSP00000463966.1:p.Gly94Ser | |
| ENST00000581886.5:n.303G>A | ||
| ENST00000584378.5:c.303-462G>A | ENSP00000462839.1:n.303-462G>A | |
| ENST00000584479.5:c.*16G>A | ENSP00000462229.1:n.*16G>A | |
| ENST00000585188.5:n.361G>A | ||
| ENST00000585217.5:c.298G>A | ENSP00000463037.1:p.Gly100Ser | |
| ENST00000614740.4:c.310G>A | ENSP00000483943.1:p.Gly104Ser | |
| ENST00000620608.4:c.310G>A | ENSP00000483915.1:p.Gly104Ser | |
| ENST00000621041.4:c.310G>A | ENSP00000479257.1:p.Gly104Ser | |
| NM_004870.3:c.310G>A | NP_004861.2:p.Gly104Ser | |
| NR_024603.1:n.521G>A | ||
| XM_006721597.1:c.310G>A | XP_006721660.1:p.Gly104Ser | |
| XM_006721598.1:c.310G>A | XP_006721661.1:p.Gly104Ser | |
| XM_006721599.1:c.310G>A | XP_006721662.1:p.Gly104Ser | |
| XM_011524081.1:c.-18G>A | XP_011522383.1:n.-18G>A | |
| NM_001330073.1:c.310G>A | NP_001317002.1:p.Gly104Ser | |
| XM_006721597.2:c.310G>A | XP_006721660.1:p.Gly104Ser | |
| XM_006721598.3:c.310G>A | XP_006721661.1:p.Gly104Ser | |
| XM_011524081.2:c.-18G>A | XP_011522383.1:n.-18G>A | |
| XM_024451040.1:c.-18G>A | XP_024306808.1:n.-18G>A | |
| NM_004870.4:c.310G>A MANE Select | NP_004861.2:p.Gly104Ser |