Linked Data
ClinVar Variation Id:
410030
dbSNP Id:
rs199859140
gnomAD v3:
22-28696915-C-G
gnomAD v4:
22-28696915-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28696915C>G , CM000684.2:g.28696915C>G | GRCh38 |
| NC_000022.10:g.29092903C>G , CM000684.1:g.29092903C>G | GRCh37 |
| NC_000022.9:g.27422903C>G | NCBI36 |
| NG_008150.1:g.49920G>C | |
| NG_008150.2:g.49952G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-1673G>C | ENSP00000518557.1:n.1009-1673G>C | |
| ENST00000402731.6:c.880G>C | ENSP00000384835.2:p.Asp294His | |
| ENST00000404276.6:c.1081G>C MANE Select | ENSP00000385747.1:p.Asp361His | |
| ENST00000425190.7:c.418G>C | ENSP00000390244.2:p.Asp140His | |
| ENST00000464581.6:c.421G>C | ENSP00000483777.2:p.Asp141His | |
| ENST00000648295.1:n.633G>C | ||
| ENST00000649563.1:c.418G>C | ENSP00000496928.1:p.Asp140His | |
| ENST00000650281.1:c.1081G>C | ENSP00000497000.1:p.Asp361His | |
| ENST00000328354.10:c.1081G>C | ENSP00000329178.6:p.Asp361His | |
| ENST00000348295.7:c.1009-1042G>C | ENSP00000329012.5:n.1009-1042G>C | |
| ENST00000382580.6:c.1210G>C | ENSP00000372023.2:p.Asp404His | |
| ENST00000402731.5:c.1009-1042G>C | ENSP00000384835.1:n.1009-1042G>C | |
| ENST00000403642.5:c.808G>C | ENSP00000384919.1:p.Asp270His | |
| ENST00000404276.5:c.1081G>C | ENSP00000385747.1:p.Asp361His | |
| ENST00000405598.5:c.1081G>C | ENSP00000386087.1:p.Asp361His | |
| ENST00000416671.5:c.*571G>C | ENSP00000402225.1:n.*571G>C | |
| ENST00000417588.5:c.990G>C | ENSP00000412901.1:n.990G>C | |
| ENST00000433028.6:c.*806G>C | ENSP00000403659.1:n.*806G>C | |
| ENST00000433728.5:c.1019G>C | ENSP00000404400.1:n.1019G>C | |
| ENST00000434810.5:c.312G>C | ||
| ENST00000447421.5:c.880G>C | ENSP00000397478.2:p.Asp294His | |
| ENST00000448511.5:c.971G>C | ENSP00000404567.1:n.971G>C | |
| ENST00000456369.5:c.263+2923G>C | ||
| NM_001005735.1:c.1210G>C | NP_001005735.1:p.Asp404His | |
| NM_001257387.1:c.418G>C | NP_001244316.1:p.Asp140His | |
| NM_007194.3:c.1081G>C | NP_009125.1:p.Asp361His | |
| NM_145862.2:c.1009-1042G>C | NP_665861.1:n.1009-1042G>C | |
| XM_006724114.2:c.601G>C | XP_006724177.1:p.Asp201His | |
| XM_006724116.2:c.538G>C | XP_006724179.2:p.Asp180His | |
| XM_011529839.1:c.1240G>C | XP_011528141.1:p.Asp414His | |
| XM_011529840.1:c.1168-1042G>C | XP_011528142.1:n.1168-1042G>C | |
| XM_011529841.1:c.1009G>C | XP_011528143.1:p.Asp337His | |
| XM_011529842.1:c.910G>C | XP_011528144.1:p.Asp304His | |
| XM_011529843.1:c.880G>C | XP_011528145.1:p.Asp294His | |
| XM_011529845.1:c.418G>C | XP_011528147.1:p.Asp140His | |
| XR_937805.1:n.1240G>C | ||
| XR_937806.1:n.1163-1042G>C | ||
| NM_001349956.1:c.880G>C | NP_001336885.1:p.Asp294His | |
| NM_007194.4:c.1081G>C MANE Select | NP_009125.1:p.Asp361His | |
| XM_006724114.3:c.634G>C | XP_006724177.2:p.Asp212His | |
| XM_011529839.2:c.1240G>C | XP_011528141.1:p.Asp414His | |
| XM_011529840.3:c.1168-1042G>C | XP_011528142.1:n.1168-1042G>C | |
| XM_011529842.2:c.910G>C | XP_011528144.1:p.Asp304His | |
| XM_011529845.2:c.418G>C | XP_011528147.1:p.Asp140His | |
| XM_017028560.1:c.1204G>C | XP_016884049.1:p.Asp402His | |
| XM_017028561.2:c.418G>C | XP_016884050.1:p.Asp140His | |
| XM_024452148.1:c.1111G>C | XP_024307916.1:p.Asp371His | |
| XM_024452149.1:c.1039-1042G>C | XP_024307917.1:n.1039-1042G>C | |
| XR_937805.2:n.1251G>C | ||
| XR_937806.2:n.1179-1042G>C | ||
| NM_001005735.2:c.1210G>C | NP_001005735.1:p.Asp404His | |
| NM_001257387.2:c.418G>C | NP_001244316.1:p.Asp140His | |
| NM_001349956.2:c.880G>C | NP_001336885.1:p.Asp294His |