Linked Data
ClinVar Variation Id:
237254
dbSNP Id:
rs766840704
ExAC:
4:55595628 T / G
gnomAD v2:
4-55595628-T-G
gnomAD v3:
4-54729462-T-G
gnomAD v4:
4-54729462-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54729462T>G , CM000666.2:g.54729462T>G | GRCh38 |
| NC_000004.11:g.55595628T>G , CM000666.1:g.55595628T>G | GRCh37 |
| NC_000004.10:g.55290385T>G | NCBI36 |
| NG_007456.1:g.76468T>G , LRG_307:g.76468T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.2109T>G | ENSP00000390987.3:p.Leu703= | |
| ENST00000685269.1:n.2196T>G | ||
| ENST00000686011.1:c.2106T>G | ENSP00000509704.1:p.Leu702= | |
| ENST00000687109.1:c.2121T>G | ENSP00000509371.1:p.Leu707= | |
| ENST00000687208.1:n.2533T>G | ||
| ENST00000687246.1:c.2106T>G | ENSP00000509114.1:p.Leu702= | |
| ENST00000687265.1:n.2276T>G | ||
| ENST00000687295.1:c.2106T>G | ENSP00000509450.1:p.Leu702= | |
| ENST00000688704.1:n.62T>G | ||
| ENST00000689832.1:c.2121T>G | ENSP00000509084.1:p.Leu707= | |
| ENST00000689994.1:c.1608T>G | ENSP00000509156.1:p.Leu536= | |
| ENST00000690543.1:c.2109T>G | ENSP00000508831.1:p.Leu703= | |
| ENST00000690917.1:n.2336T>G | ||
| ENST00000691361.1:n.1028T>G | ||
| ENST00000692783.1:c.2118T>G | ENSP00000508733.1:p.Leu706= | |
| ENST00000692991.1:n.2215T>G | ||
| ENST00000288135.6:c.2118T>G MANE Select | ENSP00000288135.6:p.Leu706= | |
| ENST00000288135.5:c.2118T>G | ENSP00000288135.5:p.Leu706= | |
| ENST00000412167.6:c.2106T>G | ENSP00000390987.2:p.Leu702= | |
| ENST00000512959.1:n.171T>G | ||
| NM_000222.2:c.2118T>G , LRG_307t1:c.2118T>G | NP_000213.1:p.Leu706= | |
| NM_001093772.1:c.2106T>G | NP_001087241.1:p.Leu702= | |
| XM_005265740.1:c.2121T>G | XP_005265797.1:p.Leu707= | |
| XM_005265741.1:c.2121T>G | XP_005265798.1:p.Leu707= | |
| XM_005265742.1:c.2109T>G | XP_005265799.1:p.Leu703= | |
| XM_005265742.3:c.2109T>G | XP_005265799.1:p.Leu703= | |
| XM_017008178.1:c.2118T>G | XP_016863667.1:p.Leu706= | |
| XM_017008179.1:c.2109T>G | XP_016863668.1:p.Leu703= | |
| XM_017008180.1:c.2106T>G | XP_016863669.1:p.Leu702= | |
| NM_000222.3:c.2118T>G MANE Select | NP_000213.1:p.Leu706= | |
| NM_001093772.2:c.2106T>G | NP_001087241.1:p.Leu702= | |
| NM_001385284.1:c.2121T>G | NP_001372213.1:p.Leu707= | |
| NM_001385285.1:c.2118T>G | NP_001372214.1:p.Leu706= | |
| NM_001385286.1:c.2106T>G | NP_001372215.1:p.Leu702= | |
| NM_001385288.1:c.2109T>G | NP_001372217.1:p.Leu703= | |
| NM_001385290.1:c.2121T>G | NP_001372219.1:p.Leu707= | |
| NM_001385292.1:c.2109T>G | NP_001372221.1:p.Leu703= |