Linked Data
ClinVar Variation Id:
376527
dbSNP Id:
rs1057519957
COSMIC:
COSM247126
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218583026C>G , CM000664.2:g.218583026C>G | GRCh38 |
| NC_000002.11:g.219447749C>G , CM000664.1:g.219447749C>G | GRCh37 |
| NC_000002.10:g.219155993C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273064.11:c.260C>G MANE Select | ENSP00000273064.6:p.Ser87Cys | |
| ENST00000273064.10:c.260C>G | ENSP00000273064.6:p.Ser87Cys | |
| ENST00000295701.9:c.260C>G | ENSP00000295701.5:p.Ser87Cys | |
| ENST00000432877.5:c.*152C>G | ENSP00000392394.1:n.*152C>G | |
| ENST00000542068.5:c.260C>G | ENSP00000443687.1:p.Ser87Cys | |
| ENST00000627282.2:c.260C>G | ENSP00000486540.1:p.Ser87Cys | |
| NM_001271634.1:c.260C>G | NP_001258563.1:p.Ser87Cys | |
| NM_001271635.1:c.260C>G | NP_001258564.1:p.Ser87Cys | |
| NM_005444.2:c.260C>G | NP_005435.1:p.Ser87Cys | |
| NR_073390.1:n.635C>G | ||
| XM_011512138.1:c.101C>G | XP_011510440.1:p.Ser34Cys | |
| XM_011512138.3:c.101C>G | XP_011510440.1:p.Ser34Cys | |
| XM_017005248.1:c.98C>G | XP_016860737.1:p.Ser33Cys | |
| XM_017005249.2:c.101C>G | XP_016860738.1:p.Ser34Cys | |
| NM_001271634.2:c.260C>G | NP_001258563.1:p.Ser87Cys | |
| NM_005444.3:c.260C>G MANE Select | NP_005435.1:p.Ser87Cys | |
| NR_073390.2:n.376C>G | ||
| NM_001271635.2:c.260C>G | NP_001258564.1:p.Ser87Cys |