Linked Data
ClinVar Variation Id:
210112
dbSNP Id:
rs201073369
ExAC:
1:955619 G / C
gnomAD v2:
1-955619-G-C
gnomAD v3:
1-1020239-G-C
gnomAD v4:
1-1020239-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1020239G>C , CM000663.2:g.1020239G>C | GRCh38 |
| NC_000001.10:g.955619G>C , CM000663.1:g.955619G>C | GRCh37 |
| NC_000001.9:g.945482G>C | NCBI36 |
| NG_016346.1:g.5117G>C , LRG_198:g.5117G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.67G>C MANE Select | ENSP00000368678.2:p.Val23Leu | |
| ENST00000379370.6:c.67G>C | ENSP00000368678.2:p.Val23Leu | |
| ENST00000620552.4:c.-348G>C | ENSP00000484607.1:n.-348G>C | |
| NM_001305275.1:c.67G>C | NP_001292204.1:p.Val23Leu | |
| NM_198576.3:c.67G>C | NP_940978.2:p.Val23Leu | |
| XM_005244749.2:c.67G>C | XP_005244806.1:p.Val23Leu | |
| XM_006710635.2:c.67G>C | XP_006710698.1:p.Val23Leu | |
| XM_011541429.1:c.67G>C | XP_011539731.1:p.Val23Leu | |
| XM_011541430.1:c.67G>C | XP_011539732.1:p.Val23Leu | |
| XR_946650.1:n.134G>C | ||
| XM_005244749.3:c.67G>C | XP_005244806.1:p.Val23Leu | |
| XM_011541429.2:c.67G>C | XP_011539731.1:p.Val23Leu | |
| XR_946650.2:n.138G>C | ||
| NM_001305275.2:c.67G>C | NP_001292204.1:p.Val23Leu | |
| NM_198576.4:c.67G>C MANE Select | NP_940978.2:p.Val23Leu |