Linked Data
ClinVar Variation Id:
3011479
ClinVar RCV Id:
RCV003870142
dbSNP Id:
rs761064369
gnomAD v2:
11-118350913-A-G
gnomAD v3:
11-118480198-A-G
gnomAD v4:
11-118480198-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118480198A>G , CM000673.2:g.118480198A>G | GRCh38 |
| NC_000011.9:g.118350913A>G , CM000673.1:g.118350913A>G | GRCh37 |
| NC_000011.8:g.117856123A>G | NCBI36 |
| NG_027813.1:g.48709A>G , LRG_613:g.48709A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.3693A>G | ENSP00000432391.3:p.Gln1231= | |
| ENST00000710560.1:c.3693A>G | ENSP00000518343.1:p.Gln1231= | |
| ENST00000527869.7:c.1176A>G | ENSP00000432652.3:p.Gln392= | |
| ENST00000533790.3:c.1077A>G | ENSP00000436700.3:p.Gln359= | |
| ENST00000649690.2:c.1401A>G | ENSP00000497372.2:p.Gln467= | |
| ENST00000685719.1:c.575A>G | ||
| ENST00000691053.1:c.3594A>G | ENSP00000509168.1:p.Gln1198= | |
| ENST00000389506.10:c.3594A>G | ENSP00000374157.5:p.Gln1198= | |
| ENST00000533790.2:c.846A>G | ENSP00000436700.2:p.Gln282= | |
| ENST00000534358.8:c.3594A>G MANE Select | ENSP00000436786.2:p.Gln1198= | |
| ENST00000648261.1:c.2364A>G | ENSP00000498126.1:p.Gln788= | |
| ENST00000649699.1:c.3594A>G | ENSP00000496927.1:p.Gln1198= | |
| ENST00000389506.9:c.3594A>G | ENSP00000374157.5:p.Gln1198= | |
| ENST00000531904.6:c.3693A>G | ENSP00000432391.2:p.Gln1231= | |
| ENST00000534358.5:c.3594A>G | ENSP00000436786.1:p.Gln1198= | |
| NM_001197104.1:c.3594A>G , LRG_613t1:c.3594A>G | NP_001184033.1:p.Gln1198= | |
| NM_005933.3:c.3594A>G | NP_005924.2:p.Gln1198= | |
| XM_006718839.2:c.1077A>G | XP_006718902.2:p.Gln359= | |
| XM_011542829.1:c.3693A>G | XP_011541131.1:p.Gln1231= | |
| XM_011542830.1:c.3693A>G | XP_011541132.1:p.Gln1231= | |
| XM_011542831.1:c.3693A>G | XP_011541133.1:p.Gln1231= | |
| XM_011542832.1:c.1500A>G | XP_011541134.1:p.Gln500= | |
| XM_011542833.1:c.1176A>G | XP_011541135.1:p.Gln392= | |
| XM_006718839.3:c.1077A>G | XP_006718902.2:p.Gln359= | |
| XM_011542829.2:c.3693A>G | XP_011541131.1:p.Gln1231= | |
| XM_011542830.2:c.3693A>G | XP_011541132.1:p.Gln1231= | |
| XM_011542831.2:c.3693A>G | XP_011541133.1:p.Gln1231= | |
| XM_011542833.2:c.1176A>G | XP_011541135.1:p.Gln392= | |
| NM_001197104.2:c.3594A>G MANE Select | NP_001184033.1:p.Gln1198= | |
| NM_005933.4:c.3594A>G | NP_005924.2:p.Gln1198= |