Linked Data
dbSNP Id:
rs782472770
ExAC:
11:118373827 T / G
gnomAD v2:
11-118373827-T-G
gnomAD v4:
11-118503112-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503112T>G , CM000673.2:g.118503112T>G | GRCh38 |
| NC_000011.9:g.118373827T>G , CM000673.1:g.118373827T>G | GRCh37 |
| NC_000011.8:g.117879037T>G | NCBI36 |
| NG_027813.1:g.71623T>G , LRG_613:g.71623T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7319T>G | ENSP00000432391.3:p.Leu2440Arg | |
| ENST00000710560.1:c.7310T>G | ENSP00000518343.1:p.Leu2437Arg | |
| ENST00000649878.2:c.1259T>G | ENSP00000497891.2:p.Leu420Arg | |
| ENST00000685397.1:c.1259T>G | ENSP00000509586.1:p.Leu420Arg | |
| ENST00000686370.1:c.1259T>G | ENSP00000509179.1:p.Leu420Arg | |
| ENST00000689424.1:c.1517T>G | ENSP00000509852.1:p.Leu506Arg | |
| ENST00000691053.1:c.7292T>G | ENSP00000509168.1:p.Leu2431Arg | |
| ENST00000389506.10:c.7211T>G | ENSP00000374157.5:p.Leu2404Arg | |
| ENST00000528278.2:n.6562T>G | ||
| ENST00000534358.8:c.7220T>G MANE Select | ENSP00000436786.2:p.Leu2407Arg | |
| ENST00000649699.1:c.7097T>G | ENSP00000496927.1:p.Leu2366Arg | |
| ENST00000389506.9:c.7211T>G | ENSP00000374157.5:p.Leu2404Arg | |
| ENST00000528278.1:n.1347T>G | ||
| ENST00000534358.5:c.7220T>G | ENSP00000436786.1:p.Leu2407Arg | |
| NM_001197104.1:c.7220T>G , LRG_613t1:c.7220T>G | NP_001184033.1:p.Leu2407Arg | |
| NM_005933.3:c.7211T>G | NP_005924.2:p.Leu2404Arg | |
| XM_006718839.2:c.4703T>G | XP_006718902.2:p.Leu1568Arg | |
| XM_011542829.1:c.7319T>G | XP_011541131.1:p.Leu2440Arg | |
| XM_011542830.1:c.7316T>G | XP_011541132.1:p.Leu2439Arg | |
| XM_011542831.1:c.7310T>G | XP_011541133.1:p.Leu2437Arg | |
| XM_011542832.1:c.5126T>G | XP_011541134.1:p.Leu1709Arg | |
| XM_011542833.1:c.4802T>G | XP_011541135.1:p.Leu1601Arg | |
| XM_006718839.3:c.4703T>G | XP_006718902.2:p.Leu1568Arg | |
| XM_011542829.2:c.7319T>G | XP_011541131.1:p.Leu2440Arg | |
| XM_011542830.2:c.7316T>G | XP_011541132.1:p.Leu2439Arg | |
| XM_011542831.2:c.7310T>G | XP_011541133.1:p.Leu2437Arg | |
| XM_011542833.2:c.4802T>G | XP_011541135.1:p.Leu1601Arg | |
| NM_001197104.2:c.7220T>G MANE Select | NP_001184033.1:p.Leu2407Arg | |
| NM_005933.4:c.7211T>G | NP_005924.2:p.Leu2404Arg |