Linked Data
dbSNP Id:
rs782600770
ExAC:
11:118373902 G / A
gnomAD v2:
11-118373902-G-A
gnomAD v4:
11-118503187-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503187G>A , CM000673.2:g.118503187G>A | GRCh38 |
| NC_000011.9:g.118373902G>A , CM000673.1:g.118373902G>A | GRCh37 |
| NC_000011.8:g.117879112G>A | NCBI36 |
| NG_027813.1:g.71698G>A , LRG_613:g.71698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7394G>A | ENSP00000432391.3:p.Gly2465Glu | |
| ENST00000710560.1:c.7385G>A | ENSP00000518343.1:p.Gly2462Glu | |
| ENST00000649878.2:c.1334G>A | ENSP00000497891.2:p.Gly445Glu | |
| ENST00000685397.1:c.1334G>A | ENSP00000509586.1:p.Gly445Glu | |
| ENST00000686370.1:c.1334G>A | ENSP00000509179.1:p.Gly445Glu | |
| ENST00000689424.1:c.1592G>A | ENSP00000509852.1:p.Gly531Glu | |
| ENST00000691053.1:c.7367G>A | ENSP00000509168.1:p.Gly2456Glu | |
| ENST00000389506.10:c.7286G>A | ENSP00000374157.5:p.Gly2429Glu | |
| ENST00000528278.2:n.6637G>A | ||
| ENST00000534358.8:c.7295G>A MANE Select | ENSP00000436786.2:p.Gly2432Glu | |
| ENST00000649699.1:c.7172G>A | ENSP00000496927.1:p.Gly2391Glu | |
| ENST00000389506.9:c.7286G>A | ENSP00000374157.5:p.Gly2429Glu | |
| ENST00000528278.1:n.1422G>A | ||
| ENST00000534358.5:c.7295G>A | ENSP00000436786.1:p.Gly2432Glu | |
| NM_001197104.1:c.7295G>A , LRG_613t1:c.7295G>A | NP_001184033.1:p.Gly2432Glu | |
| NM_005933.3:c.7286G>A | NP_005924.2:p.Gly2429Glu | |
| XM_006718839.2:c.4778G>A | XP_006718902.2:p.Gly1593Glu | |
| XM_011542829.1:c.7394G>A | XP_011541131.1:p.Gly2465Glu | |
| XM_011542830.1:c.7391G>A | XP_011541132.1:p.Gly2464Glu | |
| XM_011542831.1:c.7385G>A | XP_011541133.1:p.Gly2462Glu | |
| XM_011542832.1:c.5201G>A | XP_011541134.1:p.Gly1734Glu | |
| XM_011542833.1:c.4877G>A | XP_011541135.1:p.Gly1626Glu | |
| XM_006718839.3:c.4778G>A | XP_006718902.2:p.Gly1593Glu | |
| XM_011542829.2:c.7394G>A | XP_011541131.1:p.Gly2465Glu | |
| XM_011542830.2:c.7391G>A | XP_011541132.1:p.Gly2464Glu | |
| XM_011542831.2:c.7385G>A | XP_011541133.1:p.Gly2462Glu | |
| XM_011542833.2:c.4877G>A | XP_011541135.1:p.Gly1626Glu | |
| NM_001197104.2:c.7295G>A MANE Select | NP_001184033.1:p.Gly2432Glu | |
| NM_005933.4:c.7286G>A | NP_005924.2:p.Gly2429Glu |