Linked Data
ClinVar Variation Id:
3680
ClinVar RCV Id:
RCV000003865
dbSNP Id:
rs3180383
gnomAD v4:
1-23796202-G-T
PubMed:
PMID:9538513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796202G>T , CM000663.2:g.23796202G>T | GRCh38 |
| NC_000001.10:g.24122692G>T , CM000663.1:g.24122692G>T | GRCh37 |
| NC_000001.9:g.23995279G>T | NCBI36 |
| NG_007068.1:g.9603C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.937C>A MANE Select | ENSP00000483375.1:p.Leu313Met | |
| ENST00000374497.7:c.937C>A | ENSP00000363621.3:p.Leu313Met | |
| ENST00000429356.5:c.667C>A | ENSP00000398585.1:p.Leu223Met | |
| ENST00000456977.5:c.217C>A | ENSP00000397045.1:p.Leu73Met | |
| ENST00000459934.5:n.1165C>A | ||
| ENST00000469556.1:n.684C>A | ||
| ENST00000481736.5:n.1341C>A | ||
| ENST00000617979.4:c.937C>A | ENSP00000483375.1:p.Leu313Met | |
| NM_000403.3:c.937C>A | NP_000394.2:p.Leu313Met | |
| NM_001008216.1:c.937C>A | NP_001008217.1:p.Leu313Met | |
| NM_001127621.1:c.937C>A | NP_001121093.1:p.Leu313Met | |
| NM_001008216.2:c.937C>A MANE Select | NP_001008217.1:p.Leu313Met | |
| NM_000403.4:c.937C>A | NP_000394.2:p.Leu313Met | |
| NM_001127621.2:c.937C>A | NP_001121093.1:p.Leu313Met |