Linked Data
ClinVar Variation Id:
53809
ClinVar RCV Id:
RCV000046979
dbSNP Id:
rs397508607
ExAC:
7:117282545 T / G
gnomAD v2:
7-117282545-T-G
gnomAD v3:
7-117642491-T-G
gnomAD v4:
7-117642491-T-G
PubMed:
PMID:11379874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642491T>G , CM000669.2:g.117642491T>G | GRCh38 |
| NC_000007.13:g.117282545T>G , CM000669.1:g.117282545T>G | GRCh37 |
| NC_000007.12:g.117069781T>G | NCBI36 |
| NG_016465.4:g.181708T>G , LRG_663:g.181708T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3571T>G | ENSP00000497673.2:p.Phe1191Val | |
| ENST00000647978.2:c.*3485T>G | ENSP00000497658.1:n.*3485T>G | |
| ENST00000649781.2:c.3588T>G | ENSP00000497203.1:p.Phe1196Leu | |
| ENST00000685018.2:c.3771T>G | ENSP00000510194.2:p.Phe1257Leu | |
| ENST00000687278.2:c.*424T>G | ENSP00000509593.2:n.*424T>G | |
| ENST00000699585.1:c.3571T>G | ENSP00000514456.1:p.Phe1191Val | |
| ENST00000699598.1:c.3771T>G | ENSP00000514467.1:p.Phe1257Leu | |
| ENST00000699599.1:c.3771T>G | ENSP00000514468.1:p.Phe1257Leu | |
| ENST00000699600.1:c.*432T>G | ENSP00000514469.1:n.*432T>G | |
| ENST00000699601.1:c.*2146T>G | ENSP00000514470.1:n.*2146T>G | |
| ENST00000699602.1:c.3765T>G | ENSP00000514471.1:p.Phe1255Leu | |
| ENST00000699604.1:c.*3595T>G | ENSP00000514472.1:n.*3595T>G | |
| ENST00000699605.1:c.3345T>G | ENSP00000514473.1:p.Phe1115Leu | |
| ENST00000685018.1:c.519T>G | ENSP00000510194.1:p.Phe173Leu | |
| ENST00000687278.1:c.1558T>G | ENSP00000509593.1:n.1558T>G | |
| ENST00000689011.1:c.353T>G | ||
| ENST00000003084.11:c.3771T>G MANE Select | ENSP00000003084.6:p.Phe1257Leu | |
| ENST00000647720.1:c.1221T>G | ||
| ENST00000649781.1:c.3588T>G | ENSP00000497203.1:p.Phe1196Leu | |
| ENST00000003084.10:c.3771T>G | ENSP00000003084.6:p.Phe1257Leu | |
| ENST00000426809.5:c.3681T>G | ENSP00000389119.1:p.Phe1227Leu | |
| NM_000492.3:c.3771T>G , LRG_663t1:c.3771T>G | NP_000483.3:p.Phe1257Leu | |
| XM_011515751.1:c.3861T>G | XP_011514053.1:p.Phe1287Leu | |
| XM_011515752.1:c.3861T>G | XP_011514054.1:p.Phe1287Leu | |
| XM_011515753.1:c.3528T>G | XP_011514055.1:p.Phe1176Leu | |
| XM_011515754.1:c.3528T>G | XP_011514056.1:p.Phe1176Leu | |
| NM_000492.4:c.3771T>G MANE Select | NP_000483.3:p.Phe1257Leu |