Linked Data
ClinVar Variation Id:
341630
ClinVar RCV Id:
RCV000282083
dbSNP Id:
rs11570769
gnomAD v2:
22-38507867-C-T
gnomAD v3:
22-38111860-C-T
gnomAD v4:
22-38111860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38111860C>T , CM000684.2:g.38111860C>T | GRCh38 |
| NC_000022.10:g.38507867C>T , CM000684.1:g.38507867C>T | GRCh37 |
| NC_000022.9:g.36837813C>T | NCBI36 |
| NG_007094.2:g.98831G>A | |
| NG_033059.2:g.3810G>A | |
| NG_007094.3:g.107919G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.*301G>A MANE Select | ENSP00000333142.3:n.*301G>A | |
| ENST00000655142.1:c.*1580G>A | ENSP00000499715.1:n.*1580G>A | |
| ENST00000660610.1:c.*301G>A | ENSP00000499555.1:n.*301G>A | |
| ENST00000663895.1:c.*301G>A | ENSP00000499712.1:n.*301G>A | |
| ENST00000664587.1:c.*301G>A | ENSP00000499394.1:n.*301G>A | |
| ENST00000665987.1:c.*2461G>A | ENSP00000499423.1:n.*2461G>A | |
| ENST00000667521.1:c.*301G>A | ENSP00000499665.1:n.*301G>A | |
| ENST00000668499.1:c.*2581G>A | ENSP00000499626.1:n.*2581G>A | |
| ENST00000332509.7:c.*301G>A | ENSP00000333142.3:n.*301G>A | |
| ENST00000335539.7:c.*301G>A | ENSP00000335149.3:n.*301G>A | |
| ENST00000402064.5:c.*301G>A | ENSP00000386100.1:n.*301G>A | |
| NM_001004426.1:c.*301G>A | NP_001004426.1:n.*301G>A | |
| NM_001199562.1:c.*301G>A | NP_001186491.1:n.*301G>A | |
| NM_003560.2:c.*301G>A | NP_003551.2:n.*301G>A | |
| XM_005261764.1:c.*301G>A | XP_005261821.1:n.*301G>A | |
| XM_005261765.1:c.*301G>A | XP_005261822.1:n.*301G>A | |
| XM_005261766.1:c.*301G>A | XP_005261823.1:n.*301G>A | |
| XM_006724332.2:c.*301G>A | XP_006724395.1:n.*301G>A | |
| XM_011530422.1:c.*301G>A | XP_011528724.1:n.*301G>A | |
| XM_011530423.1:c.*301G>A | XP_011528725.1:n.*301G>A | |
| XM_011530424.1:c.*301G>A | XP_011528726.1:n.*301G>A | |
| XM_011530425.1:c.*301G>A | XP_011528727.1:n.*301G>A | |
| NM_001004426.2:c.*301G>A | NP_001004426.1:n.*301G>A | |
| NM_001199562.2:c.*301G>A | NP_001186491.1:n.*301G>A | |
| NM_001349864.1:c.*301G>A | NP_001336793.1:n.*301G>A | |
| NM_001349865.1:c.*301G>A | NP_001336794.1:n.*301G>A | |
| NM_001349866.1:c.*301G>A | NP_001336795.1:n.*301G>A | |
| NM_001349867.1:c.*301G>A | NP_001336796.1:n.*301G>A | |
| NM_001349868.1:c.*301G>A | NP_001336797.1:n.*301G>A | |
| NM_001349869.1:c.*301G>A | NP_001336798.1:n.*301G>A | |
| NM_003560.3:c.*301G>A | NP_003551.2:n.*301G>A | |
| XM_005261764.3:c.*301G>A | XP_005261821.1:n.*301G>A | |
| XM_005261765.2:c.*301G>A | XP_005261822.1:n.*301G>A | |
| XM_006724332.4:c.*301G>A | XP_006724395.1:n.*301G>A | |
| XM_017028983.1:c.*301G>A | XP_016884472.1:n.*301G>A | |
| XM_024452280.1:c.*301G>A | XP_024308048.1:n.*301G>A | |
| XM_024452281.1:c.*301G>A | XP_024308049.1:n.*301G>A | |
| XM_024452282.1:c.*301G>A | XP_024308050.1:n.*301G>A | |
| XM_024452283.1:c.*301G>A | XP_024308051.1:n.*301G>A | |
| XM_024452284.1:c.*301G>A | XP_024308052.1:n.*301G>A | |
| XM_024452285.1:c.*301G>A | XP_024308053.1:n.*301G>A | |
| XR_001755325.2:n.2905G>A | ||
| XR_001755327.2:n.2900G>A | ||
| XR_001755328.2:n.2866G>A | ||
| NM_001199562.3:c.*301G>A | NP_001186491.1:n.*301G>A | |
| NM_001349864.2:c.*301G>A | NP_001336793.1:n.*301G>A | |
| NM_001349865.2:c.*301G>A | NP_001336794.1:n.*301G>A | |
| NM_001349866.2:c.*301G>A | NP_001336795.1:n.*301G>A | |
| NM_001349867.2:c.*301G>A | NP_001336796.1:n.*301G>A | |
| NM_001349868.2:c.*301G>A | NP_001336797.1:n.*301G>A | |
| NM_001349869.2:c.*301G>A | NP_001336798.1:n.*301G>A | |
| NM_003560.4:c.*301G>A MANE Select | NP_003551.2:n.*301G>A | |
| NM_001004426.3:c.*301G>A | NP_001004426.1:n.*301G>A |