Linked Data
ClinVar Variation Id:
228677
dbSNP Id:
rs371408686
ExAC:
8:72127898 C / T
gnomAD v2:
8-72127898-C-T
gnomAD v3:
8-71215663-C-T
gnomAD v4:
8-71215663-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71215663C>T , CM000670.2:g.71215663C>T | GRCh38 |
| NC_000008.10:g.72127898C>T , CM000670.1:g.72127898C>T | GRCh37 |
| NC_000008.9:g.72290452C>T | NCBI36 |
| NG_011735.2:g.151570G>A | |
| NG_011735.3:g.337468G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340726.8:c.1426G>A MANE Select | ENSP00000342626.3:p.Asp476Asn | |
| ENST00000388741.7:c.1324G>A | ENSP00000373393.2:p.Asp442Asn | |
| ENST00000419131.6:c.1321G>A | ENSP00000410176.1:p.Asp441Asn | |
| ENST00000465115.6:c.*705G>A | ENSP00000428391.1:n.*705G>A | |
| ENST00000493349.2:c.816G>A | ||
| ENST00000496494.6:n.1889G>A | ||
| ENST00000642391.1:c.*1103G>A | ENSP00000496700.1:n.*1103G>A | |
| ENST00000643681.1:c.1513G>A | ENSP00000495390.1:p.Asp505Asn | |
| ENST00000644229.1:c.1408G>A | ENSP00000494568.1:p.Asp470Asn | |
| ENST00000644424.1:n.496G>A | ||
| ENST00000644712.1:c.1405G>A | ENSP00000496188.1:p.Asp469Asn | |
| ENST00000645793.1:c.1426G>A | ENSP00000496255.1:p.Asp476Asn | |
| ENST00000647540.1:c.1426G>A | ENSP00000494438.1:p.Asp476Asn | |
| ENST00000303824.11:c.1408G>A | ENSP00000303221.7:p.Asp470Asn | |
| ENST00000340726.7:c.1426G>A | ENSP00000342626.3:p.Asp476Asn | |
| ENST00000388740.4:c.1327G>A | ENSP00000373392.3:p.Asp443Asn | |
| ENST00000388741.6:c.1324G>A | ENSP00000373393.2:p.Asp442Asn | |
| ENST00000388742.8:c.1426G>A | ENSP00000373394.4:p.Asp476Asn | |
| ENST00000388743.6:c.1423G>A | ENSP00000373395.2:p.Asp475Asn | |
| ENST00000419131.5:c.1321G>A | ENSP00000410176.1:p.Asp441Asn | |
| ENST00000465115.5:c.*705G>A | ENSP00000428391.1:n.*705G>A | |
| ENST00000493349.1:c.*371G>A | ENSP00000428517.1:n.*371G>A | |
| ENST00000496494.5:n.1921G>A | ||
| NM_000503.5:c.1426G>A | NP_000494.2:p.Asp476Asn | |
| NM_001288574.1:c.1408G>A | NP_001275503.1:p.Asp470Asn | |
| NM_001288575.1:c.1060G>A | NP_001275504.1:p.Asp354Asn | |
| NM_172058.3:c.1426G>A | NP_742055.1:p.Asp476Asn | |
| NM_172059.3:c.1321G>A | NP_742056.1:p.Asp441Asn | |
| NM_172060.3:c.1327G>A | NP_742057.1:p.Asp443Asn | |
| XM_011517481.1:c.1498G>A | XP_011515783.1:p.Asp500Asn | |
| XM_011517482.1:c.1513G>A | XP_011515784.1:p.Asp505Asn | |
| XM_011517483.1:c.1423G>A | XP_011515785.1:p.Asp475Asn | |
| XM_011517484.1:c.1411G>A | XP_011515786.1:p.Asp471Asn | |
| XM_011517485.1:c.1426G>A | XP_011515787.1:p.Asp476Asn | |
| XM_011517486.1:c.1426G>A | XP_011515788.1:p.Asp476Asn | |
| XM_011517487.1:c.1426G>A | XP_011515789.1:p.Asp476Asn | |
| XM_011517488.1:c.1423G>A | XP_011515790.1:p.Asp475Asn | |
| XM_011517489.1:c.1363G>A | XP_011515791.1:p.Asp455Asn | |
| XM_011517490.1:c.1327G>A | XP_011515792.1:p.Asp443Asn | |
| XM_011517491.1:c.1327G>A | XP_011515793.1:p.Asp443Asn | |
| XM_011517492.1:c.1075G>A | XP_011515794.1:p.Asp359Asn | |
| NM_172059.4:c.1408G>A | NP_742056.2:p.Asp470Asn | |
| XM_011517483.2:c.1423G>A | XP_011515785.1:p.Asp475Asn | |
| XM_011517484.3:c.1498G>A | XP_011515786.2:p.Asp500Asn | |
| XM_017013201.1:c.1513G>A | XP_016868690.1:p.Asp505Asn | |
| XM_017013202.1:c.1513G>A | XP_016868691.1:p.Asp505Asn | |
| XM_017013203.2:c.1510G>A | XP_016868692.1:p.Asp504Asn | |
| XM_017013204.2:c.1495G>A | XP_016868693.1:p.Asp499Asn | |
| XM_017013205.2:c.1513G>A | XP_016868694.1:p.Asp505Asn | |
| XM_017013206.1:c.1426G>A | XP_016868695.1:p.Asp476Asn | |
| XM_017013207.2:c.1423G>A | XP_016868696.1:p.Asp475Asn | |
| XM_017013208.2:c.1423G>A | XP_016868697.1:p.Asp475Asn | |
| XM_017013210.2:c.1405G>A | XP_016868699.1:p.Asp469Asn | |
| XM_017013211.2:c.1363G>A | XP_016868700.1:p.Asp455Asn | |
| XM_017013212.2:c.1327G>A | XP_016868701.1:p.Asp443Asn | |
| XM_017013213.1:c.1075G>A | XP_016868702.1:p.Asp359Asn | |
| NM_000503.6:c.1426G>A MANE Select | NP_000494.2:p.Asp476Asn | |
| NM_001288574.2:c.1408G>A | NP_001275503.1:p.Asp470Asn | |
| NM_001288575.2:c.1060G>A | NP_001275504.1:p.Asp354Asn | |
| NM_001370333.1:c.1513G>A | NP_001357262.1:p.Asp505Asn | |
| NM_001370334.1:c.1426G>A | NP_001357263.1:p.Asp476Asn | |
| NM_001370335.1:c.1426G>A | NP_001357264.1:p.Asp476Asn | |
| NM_001370336.1:c.1405G>A | NP_001357265.1:p.Asp469Asn | |
| NM_172058.4:c.1426G>A | NP_742055.1:p.Asp476Asn | |
| NM_172059.5:c.1408G>A | NP_742056.2:p.Asp470Asn |