Linked Data
ClinVar Variation Id:
38334
ClinVar RCV Id:
RCV000031892
dbSNP Id:
rs121918410
PubMed:
PMID:20301437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151829060T>G , CM000667.2:g.151829060T>G | GRCh38 |
| NC_000005.9:g.151208621T>G , CM000667.1:g.151208621T>G | GRCh37 |
| NC_000005.8:g.151188814T>G | NCBI36 |
| NG_011764.1:g.100777A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.920A>C MANE Select | ENSP00000274576.5:p.Tyr307Ser | |
| ENST00000274576.8:c.920A>C | ENSP00000274576.4:p.Tyr307Ser | |
| ENST00000455880.2:c.920A>C | ENSP00000411593.2:p.Tyr307Ser | |
| ENST00000462581.6:c.*678A>C | ENSP00000430595.1:n.*678A>C | |
| NM_000171.3:c.920A>C | NP_000162.2:p.Tyr307Ser | |
| NM_001146040.1:c.920A>C | NP_001139512.1:p.Tyr307Ser | |
| NM_001292000.1:c.671A>C | NP_001278929.1:p.Tyr224Ser | |
| NM_000171.4:c.920A>C MANE Select | NP_000162.2:p.Tyr307Ser | |
| NM_001146040.2:c.920A>C | NP_001139512.1:p.Tyr307Ser | |
| NM_001292000.2:c.671A>C | NP_001278929.1:p.Tyr224Ser |