Linked Data
ClinVar Variation Id:
12432
ClinVar RCV Id:
RCV000013245
dbSNP Id:
rs267607127
PubMed:
PMID:9241277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151860C>T , CM000681.2:g.55151860C>T | GRCh38 |
| NC_000019.9:g.55663228C>T , CM000681.1:g.55663228C>T | GRCh37 |
| NC_000019.8:g.60355040C>T | NCBI36 |
| NG_007866.2:g.10873G>A , LRG_432:g.10873G>A | |
| NG_011829.2:g.2379G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.607G>A MANE Select | ENSP00000341838.5:p.Gly203Ser | |
| ENST00000665070.1:c.640G>A | ENSP00000499482.1:p.Gly214Ser | |
| ENST00000344887.9:c.607G>A | ENSP00000341838.5:p.Gly203Ser | |
| ENST00000585806.5:n.606G>A | ||
| ENST00000588882.1:c.532G>A | ENSP00000466729.1:p.Gly178Ser | |
| ENST00000589864.1:n.435G>A | ||
| NM_000363.4:c.607G>A , LRG_432t1:c.607G>A | NP_000354.4:p.Gly203Ser | |
| NM_000363.5:c.607G>A MANE Select | NP_000354.4:p.Gly203Ser |