Linked Data
ClinVar Variation Id:
101035
dbSNP Id:
rs587777177
gnomAD v2:
22-21341837-C-T
gnomAD v3:
22-20987548-C-T
gnomAD v4:
22-20987548-C-T
PubMed:
PMID:24362817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20987548C>T , CM000684.2:g.20987548C>T | GRCh38 |
| NC_000022.10:g.21341837C>T , CM000684.1:g.21341837C>T | GRCh37 |
| NC_000022.9:g.19671837C>T | NCBI36 |
| NG_034193.1:g.10280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.365C>T | ENSP00000515073.1:p.Ser122Leu | |
| ENST00000642151.1:c.232-462C>T | ||
| ENST00000644435.1:c.271C>T | ||
| ENST00000645935.1:c.308C>T | ENSP00000493479.1:p.Ser103Leu | |
| ENST00000646124.2:c.365C>T MANE Select | ENSP00000496779.1:p.Ser122Leu | |
| ENST00000215739.12:c.365C>T | ENSP00000215739.8:p.Ser122Leu | |
| ENST00000414985.5:c.321-462C>T | ENSP00000397247.1:n.321-462C>T | |
| ENST00000443265.5:c.*64C>T | ENSP00000406466.1:n.*64C>T | |
| ENST00000479606.5:n.511C>T | ||
| ENST00000480895.1:n.97-462C>T | ||
| NM_006767.3:c.365C>T | NP_006758.2:p.Ser122Leu | |
| NM_006767.4:c.365C>T MANE Select | NP_006758.2:p.Ser122Leu |