Linked Data
ClinVar Variation Id:
932267
ClinVar RCV Id:
RCV001199998
dbSNP Id:
rs62642933
ERepo:
CA16020887/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851703A>G , CM000674.2:g.102851703A>G | GRCh38 |
| NC_000012.11:g.103245481A>G , CM000674.1:g.103245481A>G | GRCh37 |
| NC_000012.10:g.101769611A>G | NCBI36 |
| NG_008690.1:g.70900T>C | |
| NG_008690.2:g.111708T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.896T>C MANE Select | ENSP00000448059.1:p.Phe299Ser | |
| ENST00000307000.7:c.881T>C | ENSP00000303500.2:p.Phe294Ser | |
| ENST00000549247.6:n.655T>C | ||
| ENST00000551114.2:n.558T>C | ||
| ENST00000553106.5:c.896T>C | ENSP00000448059.1:p.Phe299Ser | |
| ENST00000635477.1:c.57T>C | ||
| NM_000277.1:c.896T>C | NP_000268.1:p.Phe299Ser | |
| XM_011538422.1:c.896T>C | XP_011536724.1:p.Phe299Ser | |
| NM_000277.2:c.896T>C | NP_000268.1:p.Phe299Ser | |
| NM_001354304.1:c.896T>C | NP_001341233.1:p.Phe299Ser | |
| NM_000277.3:c.896T>C MANE Select | NP_000268.1:p.Phe299Ser | |
| NM_001354304.2:c.896T>C | NP_001341233.1:p.Phe299Ser |