Linked Data
ClinVar Variation Id:
732
ClinVar RCV Id:
RCV000000768
dbSNP Id:
rs118204055
ExAC:
7:127970949 A / G
gnomAD v2:
7-127970949-A-G
gnomAD v3:
7-128330896-A-G
gnomAD v4:
7-128330896-A-G
PubMed:
PMID:18439547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128330896A>G , CM000669.2:g.128330896A>G | GRCh38 |
| NC_000007.13:g.127970949A>G , CM000669.1:g.127970949A>G | GRCh37 |
| NC_000007.12:g.127758185A>G | NCBI36 |
| NG_015802.1:g.18014T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223073.6:c.1052T>C MANE Select | ENSP00000223073.1:p.Leu351Pro | |
| ENST00000415472.6:c.629T>C | ENSP00000390517.2:p.Leu210Pro | |
| ENST00000487602.5:c.469T>C | ||
| NM_001166135.1:c.629T>C | NP_001159607.1:p.Leu210Pro | |
| NM_018077.2:c.1052T>C | NP_060547.2:p.Leu351Pro | |
| XM_011516370.1:c.1154T>C | XP_011514672.1:p.Leu385Pro | |
| XM_011516371.1:c.58T>C | XP_011514673.1:p.Leu20= | |
| XR_927487.1:n.1274T>C | ||
| XM_011516370.3:c.1154T>C | XP_011514672.1:p.Leu385Pro | |
| XM_017012389.1:c.1154T>C | XP_016867878.1:p.Leu385Pro | |
| XM_017012390.1:c.1052T>C | XP_016867879.1:p.Leu351Pro | |
| XR_001744830.1:n.1276T>C | ||
| NM_001166135.2:c.629T>C | NP_001159607.1:p.Leu210Pro | |
| NM_018077.3:c.1052T>C MANE Select | NP_060547.2:p.Leu351Pro |