Linked Data
ClinVar Variation Id:
14753
dbSNP Id:
rs121912432
gnomAD v2:
21-33036145-C-G
PubMed:
PMID:8446170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31663832C>G , CM000683.2:g.31663832C>G | GRCh38 |
| NC_000021.8:g.33036145C>G , CM000683.1:g.33036145C>G | GRCh37 |
| NC_000021.7:g.31958016C>G | NCBI36 |
| NG_008689.1:g.9211C>G , LRG_652:g.9211C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270142.11:c.115C>G MANE Select | ENSP00000270142.7:p.Leu39Val | |
| ENST00000270142.10:c.115C>G | ENSP00000270142.6:p.Leu39Val | |
| ENST00000389995.4:c.58C>G | ENSP00000374645.4:p.Leu20Val | |
| ENST00000470944.1:n.1043C>G | ||
| ENST00000476106.5:n.378C>G | ||
| NM_000454.4:c.115C>G , LRG_652t1:c.115C>G | NP_000445.1:p.Leu39Val | |
| NM_000454.5:c.115C>G MANE Select | NP_000445.1:p.Leu39Val |