Linked Data
ClinVar Variation Id:
265205
ClinVar RCV Id:
RCV003509521
dbSNP Id:
rs886039394
gnomAD v2:
19-17947959-C-T
gnomAD v4:
19-17837150-C-T
PubMed:
PMID:29610392
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17837150C>T , CM000681.2:g.17837150C>T | GRCh38 |
| NC_000019.9:g.17947959C>T , CM000681.1:g.17947959C>T | GRCh37 |
| NC_000019.8:g.17808959C>T | NCBI36 |
| NG_007273.1:g.15842G>A , LRG_77:g.15842G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526008.6:c.*322G>A | ENSP00000513006.1:n.*322G>A | |
| ENST00000696967.1:n.942G>A | ||
| ENST00000696970.1:n.420G>A | ||
| ENST00000458235.7:c.1765G>A MANE Select | ENSP00000391676.1:p.Gly589Ser | |
| ENST00000458235.5:c.1765G>A | ENSP00000391676.1:p.Gly589Ser | |
| ENST00000527031.5:n.1855G>A | ||
| ENST00000527670.5:c.1765G>A | ENSP00000432511.1:p.Gly589Ser | |
| ENST00000534444.1:c.1765G>A | ENSP00000436421.1:p.Gly589Ser | |
| NM_000215.3:c.1765G>A , LRG_77t1:c.1765G>A | NP_000206.2:p.Gly589Ser | |
| XM_005259896.2:c.1894G>A | XP_005259953.1:p.Gly632Ser | |
| XM_006722745.2:c.1765G>A | XP_006722808.1:p.Gly589Ser | |
| XM_011527990.1:c.1894G>A | XP_011526292.1:p.Gly632Ser | |
| XM_011527991.1:c.1894G>A | XP_011526293.1:p.Gly632Ser | |
| XR_430137.2:n.1904G>A | ||
| XM_005259896.3:c.1894G>A | XP_005259953.1:p.Gly632Ser | |
| XM_011527991.2:c.1894G>A | XP_011526293.1:p.Gly632Ser | |
| NM_000215.4:c.1765G>A MANE Select | NP_000206.2:p.Gly589Ser |