Linked Data
ClinVar Variation Id:
10235
ClinVar RCV Id:
RCV000010948
dbSNP Id:
rs137852427
PubMed:
PMID:8307558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953981T>G , CM000685.2:g.154953981T>G | GRCh38 |
| NC_000023.10:g.154182256T>G , CM000685.1:g.154182256T>G | GRCh37 |
| NC_000023.9:g.153835450T>G | NCBI36 |
| NG_011403.1:g.73743A>C | |
| NG_011403.2:g.73743A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1814A>C MANE Select | ENSP00000353393.4:p.Tyr605Ser | |
| ENST00000647125.1:c.*1690A>C | ENSP00000496062.1:n.*1690A>C | |
| ENST00000360256.8:c.1814A>C | ENSP00000353393.4:p.Tyr605Ser | |
| NM_000132.3:c.1814A>C | NP_000123.1:p.Tyr605Ser | |
| XM_011531126.1:c.1709A>C | XP_011529428.1:p.Tyr570Ser | |
| NM_000132.4:c.1814A>C MANE Select | NP_000123.1:p.Tyr605Ser |