Linked Data
ClinVar Variation Id:
7570
ClinVar RCV Id:
RCV000008006
dbSNP Id:
rs121909140
PubMed:
PMID:11752579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3781907G>T , CM000672.2:g.3781907G>T | GRCh38 |
| NC_000010.10:g.3824099G>T , CM000672.1:g.3824099G>T | GRCh37 |
| NC_000010.9:g.3814099G>T | NCBI36 |
| NG_012277.1:g.8375C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000497571.6:c.410C>A MANE Select | ENSP00000419923.1:p.Ser137Ter | |
| ENST00000173785.4:n.145C>A | ||
| ENST00000380946.3:n.645C>A | ||
| ENST00000469435.1:c.410C>A | ENSP00000419079.1:p.Ser137Ter | |
| ENST00000497571.5:c.410C>A | ENSP00000419923.1:p.Ser137Ter | |
| ENST00000542957.1:c.410C>A | ENSP00000445301.1:p.Ser137Ter | |
| NM_001160124.1:c.410C>A | NP_001153596.1:p.Ser137Ter | |
| NM_001160125.1:c.410C>A | NP_001153597.1:p.Ser137Ter | |
| NM_001300.5:c.410C>A | NP_001291.3:p.Ser137Ter | |
| NR_027653.1:n.677C>A | ||
| NM_001300.6:c.410C>A MANE Select | NP_001291.3:p.Ser137Ter | |
| NM_001160124.2:c.410C>A | NP_001153596.1:p.Ser137Ter | |
| NR_027653.2:n.605C>A | ||
| NM_001160125.2:c.410C>A | NP_001153597.1:p.Ser137Ter |