Linked Data
ClinVar Variation Id:
97128
ClinVar RCV Id:
RCV000083357
dbSNP Id:
rs72554323
COSMIC:
COSM3390626
PubMed:
PMID:9266388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367392C>T , CM000685.2:g.38367392C>T | GRCh38 |
| NC_000023.10:g.38226645C>T , CM000685.1:g.38226645C>T | GRCh37 |
| NC_000023.9:g.38111589C>T | NCBI36 |
| NG_008471.1:g.19910C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.179C>T MANE Select | ENSP00000039007.4:p.Ser60Leu | |
| ENST00000643344.1:c.179C>T | ENSP00000496606.1:p.Ser60Leu | |
| ENST00000039007.4:c.179C>T | ENSP00000039007.4:p.Ser60Leu | |
| ENST00000465127.1:c.172-298729C>T | ENSP00000417050.1:n.172-298729C>T | |
| ENST00000488812.1:n.271C>T | ||
| NM_000531.5:c.179C>T | NP_000522.3:p.Ser60Leu | |
| XM_017029556.1:c.179C>T | XP_016885045.1:p.Ser60Leu | |
| NM_000531.6:c.179C>T MANE Select | NP_000522.3:p.Ser60Leu |