Linked Data
ClinVar Variation Id:
4493
ClinVar RCV Id:
RCV000004750
dbSNP Id:
rs121908186
gnomAD v2:
1-26139254-G-C
gnomAD v3:
1-25812763-G-C
gnomAD v4:
1-25812763-G-C
PubMed:
PMID:12192640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25812763G>C , CM000663.2:g.25812763G>C | GRCh38 |
| NC_000001.10:g.26139254G>C , CM000663.1:g.26139254G>C | GRCh37 |
| NC_000001.9:g.26011841G>C | NCBI36 |
| NG_009930.1:g.17588G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354177.9:c.1187G>C | ENSP00000346109.5:p.Trp396Ser | |
| ENST00000494537.2:c.1256G>C | ENSP00000508308.1:p.Trp419Ser | |
| ENST00000361547.7:c.1358G>C MANE Select | ENSP00000355141.2:p.Trp453Ser | |
| ENST00000354177.8:c.1256G>C | ENSP00000346109.4:p.Trp419Ser | |
| ENST00000361547.6:c.1358G>C | ENSP00000355141.2:p.Trp453Ser | |
| ENST00000374315.1:c.1256G>C | ENSP00000363434.1:p.Trp419Ser | |
| ENST00000494537.1:n.36G>C | ||
| ENST00000559265.1:n.255+884G>C | ||
| ENST00000630065.2:c.-215G>C | ENSP00000487549.1:n.-215G>C | |
| NM_020451.2:c.1358G>C | NP_065184.2:p.Trp453Ser | |
| NM_206926.1:c.1256G>C | NP_996809.1:p.Trp419Ser | |
| NM_020451.3:c.1358G>C MANE Select | NP_065184.2:p.Trp453Ser | |
| NM_206926.2:c.1256G>C | NP_996809.1:p.Trp419Ser |