Linked Data
ClinVar Variation Id:
1327561
ClinVar RCV Id:
RCV001789823
dbSNP Id:
rs5030854
ERepo:
CA16020934/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843769G>A , CM000674.2:g.102843769G>A | GRCh38 |
| NC_000012.11:g.103237547G>A , CM000674.1:g.103237547G>A | GRCh37 |
| NC_000012.10:g.101761677G>A | NCBI36 |
| NG_008690.1:g.78834C>T | |
| NG_008690.2:g.119642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1076C>T MANE Select | ENSP00000448059.1:p.Ser359Leu | |
| ENST00000307000.7:c.1061C>T | ENSP00000303500.2:p.Ser354Leu | |
| ENST00000549247.6:n.835C>T | ||
| ENST00000551114.2:n.738C>T | ||
| ENST00000553106.5:c.1076C>T | ENSP00000448059.1:p.Ser359Leu | |
| ENST00000635477.1:c.180C>T | ||
| ENST00000635528.1:n.591C>T | ||
| NM_000277.1:c.1076C>T | NP_000268.1:p.Ser359Leu | |
| XM_011538422.1:c.1019C>T | XP_011536724.1:p.Ser340Leu | |
| NM_000277.2:c.1076C>T | NP_000268.1:p.Ser359Leu | |
| NM_001354304.1:c.1076C>T | NP_001341233.1:p.Ser359Leu | |
| NM_000277.3:c.1076C>T MANE Select | NP_000268.1:p.Ser359Leu | |
| NM_001354304.2:c.1076C>T | NP_001341233.1:p.Ser359Leu |