Linked Data
ClinVar Variation Id:
725156
ClinVar RCV Id:
RCV000899176
dbSNP Id:
rs1412301408
gnomAD v2:
11-118361975-A-G
gnomAD v3:
11-118491260-A-G
gnomAD v4:
11-118491260-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118491260A>G , CM000673.2:g.118491260A>G | GRCh38 |
| NC_000011.9:g.118361975A>G , CM000673.1:g.118361975A>G | GRCh37 |
| NC_000011.8:g.117867185A>G | NCBI36 |
| NG_027813.1:g.59771A>G , LRG_613:g.59771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.4860A>G | ENSP00000432391.3:p.Gln1620= | |
| ENST00000710560.1:c.4860A>G | ENSP00000518343.1:p.Gln1620= | |
| ENST00000685498.1:c.537A>G | ENSP00000509293.1:p.Gln179= | |
| ENST00000691053.1:c.4761A>G | ENSP00000509168.1:p.Gln1587= | |
| ENST00000389506.10:c.4761A>G | ENSP00000374157.5:p.Gln1587= | |
| ENST00000534358.8:c.4761A>G MANE Select | ENSP00000436786.2:p.Gln1587= | |
| ENST00000649699.1:c.4647A>G | ENSP00000496927.1:p.Gln1549= | |
| ENST00000389506.9:c.4761A>G | ENSP00000374157.5:p.Gln1587= | |
| ENST00000392873.3:c.897A>G | ENSP00000376612.3:p.Gln299= | |
| ENST00000534358.5:c.4761A>G | ENSP00000436786.1:p.Gln1587= | |
| NM_001197104.1:c.4761A>G , LRG_613t1:c.4761A>G | NP_001184033.1:p.Gln1587= | |
| NM_005933.3:c.4761A>G | NP_005924.2:p.Gln1587= | |
| XM_006718839.2:c.2244A>G | XP_006718902.2:p.Gln748= | |
| XM_011542829.1:c.4860A>G | XP_011541131.1:p.Gln1620= | |
| XM_011542830.1:c.4857A>G | XP_011541132.1:p.Gln1619= | |
| XM_011542831.1:c.4860A>G | XP_011541133.1:p.Gln1620= | |
| XM_011542832.1:c.2667A>G | XP_011541134.1:p.Gln889= | |
| XM_011542833.1:c.2343A>G | XP_011541135.1:p.Gln781= | |
| XM_006718839.3:c.2244A>G | XP_006718902.2:p.Gln748= | |
| XM_011542829.2:c.4860A>G | XP_011541131.1:p.Gln1620= | |
| XM_011542830.2:c.4857A>G | XP_011541132.1:p.Gln1619= | |
| XM_011542831.2:c.4860A>G | XP_011541133.1:p.Gln1620= | |
| XM_011542833.2:c.2343A>G | XP_011541135.1:p.Gln781= | |
| NM_001197104.2:c.4761A>G MANE Select | NP_001184033.1:p.Gln1587= | |
| NM_005933.4:c.4761A>G | NP_005924.2:p.Gln1587= |