Linked Data
ClinVar Variation Id:
55948
ClinVar RCV Id:
RCV000049357
dbSNP Id:
rs386833429
gnomAD v4:
4-177442332-A-C
PubMed:
PMID:15365992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442332A>C , CM000666.2:g.177442332A>C | GRCh38 |
| NC_000004.11:g.178363486A>C , CM000666.1:g.178363486A>C | GRCh37 |
| NC_000004.10:g.178600480A>C | NCBI36 |
| NG_011845.2:g.5172T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.44T>G MANE Select | ENSP00000264595.2:p.Leu15Arg | |
| ENST00000264595.6:c.44T>G | ENSP00000264595.2:p.Leu15Arg | |
| ENST00000506853.5:n.78T>G | ||
| ENST00000510955.5:n.78T>G | ||
| ENST00000511231.1:n.78T>G | ||
| NM_000027.3:c.44T>G | NP_000018.2:p.Leu15Arg | |
| NM_001171988.1:c.44T>G | NP_001165459.1:p.Leu15Arg | |
| NR_033655.1:n.172T>G | ||
| XM_006714123.2:c.44T>G | XP_006714186.1:p.Leu15Arg | |
| XR_001741155.2:n.138T>G | ||
| NM_000027.4:c.44T>G MANE Select | NP_000018.2:p.Leu15Arg | |
| NM_001171988.2:c.44T>G | NP_001165459.1:p.Leu15Arg | |
| NR_033655.2:n.106T>G |