Linked Data
ClinVar Variation Id:
3011730
ClinVar RCV Id:
RCV003872793
dbSNP Id:
rs1436109252
gnomAD v3:
1-29194082-C-T
gnomAD v4:
1-29194082-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.29194082C>T , CM000663.2:g.29194082C>T | GRCh38 |
| NC_000001.10:g.29520594C>T , CM000663.1:g.29520594C>T | GRCh37 |
| NC_000001.9:g.29393181C>T | NCBI36 |
| NG_053058.1:g.41877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263702.11:c.1062G>A MANE Select | ENSP00000263702.6:p.Gln354= | |
| ENST00000263702.10:c.1062G>A | ENSP00000263702.6:p.Gln354= | |
| ENST00000373791.7:c.834G>A | ENSP00000362896.3:p.Gln278= | |
| ENST00000463412.1:c.865G>A | ENSP00000436831.1:n.865G>A | |
| ENST00000473030.5:n.711G>A | ||
| ENST00000475773.5:n.509G>A | ||
| ENST00000483435.5:n.306G>A | ||
| NM_001024732.2:c.834G>A | NP_001019903.2:p.Gln278= | |
| NM_016011.3:c.1062G>A | NP_057095.3:p.Gln354= | |
| XM_005245885.1:c.1146G>A | XP_005245942.1:p.Gln382= | |
| XM_005245887.1:c.834G>A | XP_005245944.1:p.Gln278= | |
| XM_011541539.1:c.1320G>A | XP_011539841.1:p.Gln440= | |
| XM_011541540.1:c.1236G>A | XP_011539842.1:p.Gln412= | |
| XM_011541541.1:c.*80G>A | XP_011539843.1:n.*80G>A | |
| XM_011541542.1:c.1008G>A | XP_011539844.1:p.Gln336= | |
| XM_011541543.1:c.1008G>A | XP_011539845.1:p.Gln336= | |
| XM_011541544.1:c.1008G>A | XP_011539846.1:p.Gln336= | |
| XM_011541545.1:c.1008G>A | XP_011539847.1:p.Gln336= | |
| XM_011541546.1:c.1008G>A | XP_011539848.1:p.Gln336= | |
| XM_011541547.1:c.1008G>A | XP_011539849.1:p.Gln336= | |
| XM_011541548.1:c.1008G>A | XP_011539850.1:p.Gln336= | |
| XM_011541549.1:c.1008G>A | XP_011539851.1:p.Gln336= | |
| XM_011541550.1:c.1008G>A | XP_011539852.1:p.Gln336= | |
| XM_011541551.1:c.1008G>A | XP_011539853.1:p.Gln336= | |
| XM_011541552.1:c.1008G>A | XP_011539854.1:p.Gln336= | |
| XM_011541553.1:c.1008G>A | XP_011539855.1:p.Gln336= | |
| XM_011541554.1:c.1008G>A | XP_011539856.1:p.Gln336= | |
| XR_946662.1:n.1338G>A | ||
| XR_946663.1:n.1309G>A | ||
| XR_946664.1:n.1061G>A | ||
| NM_001024732.3:c.834G>A | NP_001019903.3:p.Gln278= | |
| NM_001349711.1:c.834G>A | NP_001336640.1:p.Gln278= | |
| NM_001349712.1:c.834G>A | NP_001336641.1:p.Gln278= | |
| NM_001349713.1:c.834G>A | NP_001336642.1:p.Gln278= | |
| NM_001349714.1:c.834G>A | NP_001336643.1:p.Gln278= | |
| NM_001349715.1:c.1167G>A | NP_001336644.1:p.Gln389= | |
| NM_001349716.1:c.1146G>A | NP_001336645.1:p.Gln382= | |
| NM_001349717.1:c.912G>A | NP_001336646.1:p.Gln304= | |
| NM_016011.4:c.1062G>A | NP_057095.4:p.Gln354= | |
| NR_146212.1:n.1347G>A | ||
| NR_146213.1:n.1114G>A | ||
| NR_146214.1:n.1367G>A | ||
| NR_146215.1:n.1241G>A | ||
| XM_011541540.2:c.1236G>A | XP_011539842.1:p.Gln412= | |
| XM_017001411.1:c.1008G>A | XP_016856900.1:p.Gln336= | |
| XM_017001412.1:c.1008G>A | XP_016856901.1:p.Gln336= | |
| XM_017001413.1:c.834G>A | XP_016856902.1:p.Gln278= | |
| XM_017001416.1:c.*80G>A | XP_016856905.1:n.*80G>A | |
| XM_024447442.1:c.834G>A | XP_024303210.1:p.Gln278= | |
| XM_024447443.1:c.834G>A | XP_024303211.1:p.Gln278= | |
| XM_024447444.1:c.834G>A | XP_024303212.1:p.Gln278= | |
| XM_024447446.1:c.834G>A | XP_024303214.1:p.Gln278= | |
| XM_024447448.1:c.834G>A | XP_024303216.1:p.Gln278= | |
| XM_024447450.1:c.834G>A | XP_024303218.1:p.Gln278= | |
| XM_024447452.1:c.*80G>A | XP_024303220.1:n.*80G>A | |
| XR_001737209.1:n.1415G>A | ||
| XR_001737210.1:n.1684G>A | ||
| XR_002956765.1:n.1396G>A | ||
| XR_946663.2:n.1309G>A | ||
| NM_001024732.4:c.834G>A | NP_001019903.3:p.Gln278= | |
| NM_001349711.2:c.834G>A | NP_001336640.1:p.Gln278= | |
| NM_001349712.2:c.834G>A | NP_001336641.1:p.Gln278= | |
| NM_001349713.2:c.834G>A | NP_001336642.1:p.Gln278= | |
| NM_001349714.2:c.834G>A | NP_001336643.1:p.Gln278= | |
| NM_001349715.2:c.1167G>A | NP_001336644.1:p.Gln389= | |
| NM_001349716.2:c.1146G>A | NP_001336645.1:p.Gln382= | |
| NM_001349717.2:c.912G>A | NP_001336646.1:p.Gln304= | |
| NM_016011.5:c.1062G>A MANE Select | NP_057095.4:p.Gln354= | |
| NR_146212.2:n.1323G>A | ||
| NR_146213.2:n.1090G>A | ||
| NR_146214.2:n.1343G>A | ||
| NR_146215.2:n.1217G>A |