Linked Data
ClinVar Variation Id:
3107174
ClinVar RCV Id:
RCV004404528
dbSNP Id:
rs587759526
ExAC:
1:119964542 G / A
gnomAD v2:
1-119964542-G-A
gnomAD v3:
1-119421919-G-A
gnomAD v4:
1-119421919-G-A
COSMIC:
COSM5030248
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119421919G>A , CM000663.2:g.119421919G>A | GRCh38 |
| NC_000001.10:g.119964542G>A , CM000663.1:g.119964542G>A | GRCh37 |
| NC_000001.9:g.119766065G>A | NCBI36 |
| NG_013349.1:g.11989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.418G>A MANE Select | ENSP00000358424.3:p.Gly140Ser | |
| ENST00000369416.3:c.418G>A | ENSP00000358424.3:p.Gly140Ser | |
| ENST00000433745.5:c.418G>A | ENSP00000388292.1:p.Gly140Ser | |
| ENST00000448448.2:n.362G>A | ||
| ENST00000543831.5:c.418G>A | ENSP00000445122.1:p.Gly140Ser | |
| NM_000198.3:c.418G>A | NP_000189.1:p.Gly140Ser | |
| NM_001166120.1:c.418G>A | NP_001159592.1:p.Gly140Ser | |
| NM_000198.4:c.418G>A MANE Select | NP_000189.1:p.Gly140Ser | |
| NM_001166120.2:c.418G>A | NP_001159592.1:p.Gly140Ser |