Linked Data
ClinVar Variation Id:
167058
dbSNP Id:
rs187695569
ExAC:
2:62067006 A / C
gnomAD v2:
2-62067006-A-C
gnomAD v3:
2-61839871-A-C
gnomAD v4:
2-61839871-A-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61839871A>C , CM000664.2:g.61839871A>C | GRCh38 |
| NC_000002.11:g.62067006A>C , CM000664.1:g.62067006A>C | GRCh37 |
| NC_000002.10:g.61920510A>C | NCBI36 |
| NG_028125.1:g.19273T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.1133T>G MANE Select | ENSP00000385158.1:p.Leu378Arg | |
| ENST00000307507.3:c.*1143T>G | ENSP00000303170.3:n.*1143T>G | |
| ENST00000404929.5:c.1133T>G | ENSP00000385158.1:p.Leu378Arg | |
| ENST00000405894.3:c.1133T>G | ENSP00000385893.3:p.Leu378Arg | |
| ENST00000418113.5:c.1120T>G | ||
| ENST00000456262.5:c.*648T>G | ENSP00000396105.1:n.*648T>G | |
| NM_001201543.1:c.1133T>G | NP_001188472.1:p.Leu378Arg | |
| NM_032180.2:c.1133T>G | NP_115556.2:p.Leu378Arg | |
| NR_037710.1:n.1179T>G | ||
| XR_939724.1:n.2494T>G | ||
| XM_017005072.1:c.806T>G | XP_016860561.1:p.Leu269Arg | |
| XM_017005073.1:c.563T>G | XP_016860562.1:p.Leu188Arg | |
| XM_017005074.1:c.563T>G | XP_016860563.1:p.Leu188Arg | |
| XR_001738972.2:n.1134T>G | ||
| XR_001738973.2:n.1134T>G | ||
| XR_001738974.2:n.1134T>G | ||
| XR_001738975.2:n.1134T>G | ||
| XR_001738976.1:n.1162T>G | ||
| XR_001738977.1:n.1162T>G | ||
| NM_001201543.2:c.1133T>G MANE Select | NP_001188472.1:p.Leu378Arg | |
| NM_032180.3:c.1133T>G | NP_115556.2:p.Leu378Arg | |
| NR_037710.2:n.1096T>G |