Linked Data
ClinVar Variation Id:
46301
dbSNP Id:
rs41311625
ExAC:
5:90449159 T / G
gnomAD v2:
5-90449159-T-G
gnomAD v3:
5-91153342-T-G
gnomAD v4:
5-91153342-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.91153342T>G , CM000667.2:g.91153342T>G | GRCh38 |
| NC_000005.9:g.90449159T>G , CM000667.1:g.90449159T>G | GRCh37 |
| NC_000005.8:g.90484915T>G | NCBI36 |
| NG_007083.1:g.599543T>G | |
| NG_007083.2:g.628999T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.18746T>G MANE Select | ENSP00000384582.2:p.Leu6249Arg | |
| ENST00000425867.3:c.7700T>G | ENSP00000392618.3:p.Leu2567Arg | |
| ENST00000638510.1:n.6013T>G | ||
| ENST00000638990.1:c.1958T>G | ||
| ENST00000639212.1:n.666T>G | ||
| ENST00000639530.1:n.614T>G | ||
| ENST00000639821.1:c.517-10440T>G | ENSP00000492216.1:n.517-10440T>G | |
| ENST00000640256.1:n.422T>G | ||
| ENST00000640407.1:c.5195T>G | ENSP00000491425.1:n.5195T>G | |
| ENST00000640815.1:c.830T>G | ENSP00000491767.1:p.Leu277Arg | |
| ENST00000405460.6:c.18746T>G | ENSP00000384582.2:p.Leu6249Arg | |
| ENST00000425867.2:c.5729T>G | ENSP00000392618.2:p.Leu1910Arg | |
| NM_032119.3:c.18746T>G | NP_115495.3:p.Leu6249Arg | |
| NR_003149.1:n.18759T>G | ||
| XM_011543675.1:c.18743T>G | XP_011541977.1:p.Leu6248Arg | |
| XM_011543676.1:c.18665T>G | XP_011541978.1:p.Leu6222Arg | |
| XM_011543677.1:c.16049T>G | XP_011541979.1:p.Leu5350Arg | |
| NM_032119.4:c.18746T>G MANE Select | NP_115495.3:p.Leu6249Arg | |
| XM_017009963.2:c.18767T>G | XP_016865452.1:p.Leu6256Arg | |
| XM_017009964.2:c.18764T>G | XP_016865453.1:p.Leu6255Arg | |
| XM_017009965.1:c.18764T>G | XP_016865454.1:p.Leu6255Arg | |
| XM_017009966.2:c.18686T>G | XP_016865455.1:p.Leu6229Arg | |
| XM_017009967.1:c.18671T>G | XP_016865456.1:p.Leu6224Arg | |
| XM_017009968.2:c.18587T>G | XP_016865457.1:p.Leu6196Arg | |
| XM_017009969.2:c.18454-10440T>G | XP_016865458.1:n.18454-10440T>G | |
| XM_017009972.1:c.11885T>G | XP_016865461.1:p.Leu3962Arg | |
| XM_017009973.1:c.11864T>G | XP_016865462.1:p.Leu3955Arg | |
| XR_001742795.1:n.225-1154A>C | ||
| XR_001742796.1:n.225-17348A>C | ||
| NR_003149.2:n.18762T>G |