Linked Data
ClinVar Variation Id:
46374
dbSNP Id:
rs41303344
ExAC:
5:89923101 G / A
gnomAD v2:
5-89923101-G-A
gnomAD v3:
5-90627284-G-A
gnomAD v4:
5-90627284-G-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90627284G>A , CM000667.2:g.90627284G>A | GRCh38 |
| NC_000005.9:g.89923101G>A , CM000667.1:g.89923101G>A | GRCh37 |
| NC_000005.8:g.89958857G>A | NCBI36 |
| NG_007083.1:g.73485G>A | |
| NG_007083.2:g.102941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.746G>A MANE Select | ENSP00000384582.2:p.Arg249Lys | |
| ENST00000640083.1:n.451G>A | ||
| ENST00000640109.1:n.842G>A | ||
| ENST00000640281.1:n.805G>A | ||
| ENST00000405460.6:c.746G>A | ENSP00000384582.2:p.Arg249Lys | |
| NM_032119.3:c.746G>A | NP_115495.3:p.Arg249Lys | |
| NR_003149.1:n.842G>A | ||
| XM_011543675.1:c.746G>A | XP_011541977.1:p.Arg249Lys | |
| XM_011543676.1:c.746G>A | XP_011541978.1:p.Arg249Lys | |
| XM_011543678.1:c.746G>A | XP_011541980.1:p.Arg249Lys | |
| XM_011543679.1:c.746G>A | XP_011541981.1:p.Arg249Lys | |
| NM_032119.4:c.746G>A MANE Select | NP_115495.3:p.Arg249Lys | |
| XM_017009963.2:c.746G>A | XP_016865452.1:p.Arg249Lys | |
| XM_017009964.2:c.746G>A | XP_016865453.1:p.Arg249Lys | |
| XM_017009965.1:c.743G>A | XP_016865454.1:p.Arg248Lys | |
| XM_017009966.2:c.746G>A | XP_016865455.1:p.Arg249Lys | |
| XM_017009967.1:c.650G>A | XP_016865456.1:p.Arg217Lys | |
| XM_017009968.2:c.746G>A | XP_016865457.1:p.Arg249Lys | |
| XM_017009969.2:c.746G>A | XP_016865458.1:p.Arg249Lys | |
| XM_017009970.2:c.746G>A | XP_016865459.1:p.Arg249Lys | |
| XM_017009971.2:c.746G>A | XP_016865460.1:p.Arg249Lys | |
| XM_017009974.2:c.746G>A | XP_016865463.1:p.Arg249Lys | |
| NR_003149.2:n.845G>A |