Linked Data
ClinVar Variation Id:
232564
dbSNP Id:
rs202051128
ExAC:
22:29092952 T / C
gnomAD v2:
22-29092952-T-C
gnomAD v3:
22-28696964-T-C
gnomAD v4:
22-28696964-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28696964T>C , CM000684.2:g.28696964T>C | GRCh38 |
| NC_000022.10:g.29092952T>C , CM000684.1:g.29092952T>C | GRCh37 |
| NC_000022.9:g.27422952T>C | NCBI36 |
| NG_008150.1:g.49871A>G | |
| NG_008150.2:g.49903A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-1722A>G | ENSP00000518557.1:n.1009-1722A>G | |
| ENST00000402731.6:c.831A>G | ENSP00000384835.2:p.Ile277Met | |
| ENST00000404276.6:c.1032A>G MANE Select | ENSP00000385747.1:p.Ile344Met | |
| ENST00000425190.7:c.369A>G | ENSP00000390244.2:p.Ile123Met | |
| ENST00000464581.6:c.372A>G | ENSP00000483777.2:p.Ile124Met | |
| ENST00000648295.1:n.584A>G | ||
| ENST00000649563.1:c.369A>G | ENSP00000496928.1:p.Ile123Met | |
| ENST00000650281.1:c.1032A>G | ENSP00000497000.1:p.Ile344Met | |
| ENST00000328354.10:c.1032A>G | ENSP00000329178.6:p.Ile344Met | |
| ENST00000348295.7:c.1009-1091A>G | ENSP00000329012.5:n.1009-1091A>G | |
| ENST00000382580.6:c.1161A>G | ENSP00000372023.2:p.Ile387Met | |
| ENST00000402731.5:c.1009-1091A>G | ENSP00000384835.1:n.1009-1091A>G | |
| ENST00000403642.5:c.759A>G | ENSP00000384919.1:p.Ile253Met | |
| ENST00000404276.5:c.1032A>G | ENSP00000385747.1:p.Ile344Met | |
| ENST00000405598.5:c.1032A>G | ENSP00000386087.1:p.Ile344Met | |
| ENST00000416671.5:c.*522A>G | ENSP00000402225.1:n.*522A>G | |
| ENST00000417588.5:c.941A>G | ENSP00000412901.1:n.941A>G | |
| ENST00000433028.6:c.*757A>G | ENSP00000403659.1:n.*757A>G | |
| ENST00000433728.5:c.970A>G | ENSP00000404400.1:n.970A>G | |
| ENST00000434810.5:c.263A>G | ||
| ENST00000447421.5:c.831A>G | ENSP00000397478.2:p.Ile277Met | |
| ENST00000448511.5:c.922A>G | ENSP00000404567.1:n.922A>G | |
| ENST00000456369.5:c.263+2874A>G | ||
| ENST00000464581.5:c.372A>G | ENSP00000483777.1:p.Ile124Met | |
| ENST00000491919.5:n.589A>G | ||
| NM_001005735.1:c.1161A>G | NP_001005735.1:p.Ile387Met | |
| NM_001257387.1:c.369A>G | NP_001244316.1:p.Ile123Met | |
| NM_007194.3:c.1032A>G | NP_009125.1:p.Ile344Met | |
| NM_145862.2:c.1009-1091A>G | NP_665861.1:n.1009-1091A>G | |
| XM_006724114.2:c.552A>G | XP_006724177.1:p.Ile184Met | |
| XM_006724116.2:c.489A>G | XP_006724179.2:p.Ile163Met | |
| XM_011529839.1:c.1191A>G | XP_011528141.1:p.Ile397Met | |
| XM_011529840.1:c.1168-1091A>G | XP_011528142.1:n.1168-1091A>G | |
| XM_011529841.1:c.960A>G | XP_011528143.1:p.Ile320Met | |
| XM_011529842.1:c.861A>G | XP_011528144.1:p.Ile287Met | |
| XM_011529843.1:c.831A>G | XP_011528145.1:p.Ile277Met | |
| XM_011529845.1:c.369A>G | XP_011528147.1:p.Ile123Met | |
| XR_937805.1:n.1191A>G | ||
| XR_937806.1:n.1163-1091A>G | ||
| NM_001349956.1:c.831A>G | NP_001336885.1:p.Ile277Met | |
| NM_007194.4:c.1032A>G MANE Select | NP_009125.1:p.Ile344Met | |
| XM_006724114.3:c.585A>G | XP_006724177.2:p.Ile195Met | |
| XM_011529839.2:c.1191A>G | XP_011528141.1:p.Ile397Met | |
| XM_011529840.3:c.1168-1091A>G | XP_011528142.1:n.1168-1091A>G | |
| XM_011529842.2:c.861A>G | XP_011528144.1:p.Ile287Met | |
| XM_011529845.2:c.369A>G | XP_011528147.1:p.Ile123Met | |
| XM_017028560.1:c.1155A>G | XP_016884049.1:p.Ile385Met | |
| XM_017028561.2:c.369A>G | XP_016884050.1:p.Ile123Met | |
| XM_024452148.1:c.1062A>G | XP_024307916.1:p.Ile354Met | |
| XM_024452149.1:c.1039-1091A>G | XP_024307917.1:n.1039-1091A>G | |
| XR_937805.2:n.1202A>G | ||
| XR_937806.2:n.1179-1091A>G | ||
| NM_001005735.2:c.1161A>G | NP_001005735.1:p.Ile387Met | |
| NM_001257387.2:c.369A>G | NP_001244316.1:p.Ile123Met | |
| NM_001349956.2:c.831A>G | NP_001336885.1:p.Ile277Met |