Linked Data
ClinVar Variation Id:
7625
ClinVar RCV Id:
RCV000008064
dbSNP Id:
rs121918352
PubMed:
PMID:11157803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10672978A>G , CM000682.2:g.10672978A>G | GRCh38 |
| NC_000020.10:g.10653626A>G , CM000682.1:g.10653626A>G | GRCh37 |
| NC_000020.9:g.10601626A>G | NCBI36 |
| NG_007496.1:g.6069T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.110T>C MANE Select | ENSP00000254958.4:p.Leu37Ser | |
| ENST00000254958.9:c.110T>C | ENSP00000254958.4:p.Leu37Ser | |
| NM_000214.2:c.110T>C | NP_000205.1:p.Leu37Ser | |
| NM_000214.3:c.110T>C MANE Select | NP_000205.1:p.Leu37Ser |