Linked Data
ClinVar Variation Id:
720588
ClinVar RCV Id:
RCV003615864
dbSNP Id:
rs759728603
ExAC:
22:38508590 G / A
gnomAD v2:
22-38508590-G-A
gnomAD v4:
22-38112583-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38112583G>A , CM000684.2:g.38112583G>A | GRCh38 |
| NC_000022.10:g.38508590G>A , CM000684.1:g.38508590G>A | GRCh37 |
| NC_000022.9:g.36838536G>A | NCBI36 |
| NG_007094.2:g.98108C>T | |
| NG_033059.2:g.3087C>T | |
| NG_007094.3:g.107196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.2203-6C>T MANE Select | ENSP00000333142.3:n.2203-6C>T | |
| ENST00000436218.6:c.*1401-6C>T | ENSP00000401242.1:n.*1401-6C>T | |
| ENST00000655142.1:c.*1061-6C>T | ENSP00000499715.1:n.*1061-6C>T | |
| ENST00000660610.1:c.2203-6C>T | ENSP00000499555.1:n.2203-6C>T | |
| ENST00000663895.1:c.2203-6C>T | ENSP00000499712.1:n.2203-6C>T | |
| ENST00000664587.1:c.2065-6C>T | ENSP00000499394.1:n.2065-6C>T | |
| ENST00000665987.1:c.*1942-6C>T | ENSP00000499423.1:n.*1942-6C>T | |
| ENST00000667521.1:c.2203-6C>T | ENSP00000499665.1:n.2203-6C>T | |
| ENST00000668499.1:c.*2062-6C>T | ENSP00000499626.1:n.*2062-6C>T | |
| ENST00000668949.1:c.2245-6C>T | ENSP00000499711.1:n.2245-6C>T | |
| ENST00000671093.1:n.2135-6C>T | ||
| ENST00000673413.1:c.*1872-6C>T | ENSP00000500600.1:n.*1872-6C>T | |
| ENST00000332509.7:c.2203-6C>T | ENSP00000333142.3:n.2203-6C>T | |
| ENST00000335539.7:c.2041-6C>T | ENSP00000335149.3:n.2041-6C>T | |
| ENST00000402064.5:c.2041-6C>T | ENSP00000386100.1:n.2041-6C>T | |
| ENST00000463287.1:n.273C>T | ||
| NM_001004426.1:c.2041-6C>T | NP_001004426.1:n.2041-6C>T | |
| NM_001199562.1:c.2041-6C>T | NP_001186491.1:n.2041-6C>T | |
| NM_003560.2:c.2203-6C>T | NP_003551.2:n.2203-6C>T | |
| XM_005261764.1:c.2203-6C>T | XP_005261821.1:n.2203-6C>T | |
| XM_005261765.1:c.2203-6C>T | XP_005261822.1:n.2203-6C>T | |
| XM_005261766.1:c.2203-6C>T | XP_005261823.1:n.2203-6C>T | |
| XM_006724332.2:c.2203-6C>T | XP_006724395.1:n.2203-6C>T | |
| XM_011530422.1:c.2098-6C>T | XP_011528724.1:n.2098-6C>T | |
| XM_011530423.1:c.1669-6C>T | XP_011528725.1:n.1669-6C>T | |
| XM_011530424.1:c.1669-6C>T | XP_011528726.1:n.1669-6C>T | |
| XM_011530425.1:c.1669-6C>T | XP_011528727.1:n.1669-6C>T | |
| NM_001004426.2:c.2041-6C>T | NP_001004426.1:n.2041-6C>T | |
| NM_001199562.2:c.2041-6C>T | NP_001186491.1:n.2041-6C>T | |
| NM_001349864.1:c.2203-6C>T | NP_001336793.1:n.2203-6C>T | |
| NM_001349865.1:c.2041-6C>T | NP_001336794.1:n.2041-6C>T | |
| NM_001349866.1:c.2041-6C>T | NP_001336795.1:n.2041-6C>T | |
| NM_001349867.1:c.1669-6C>T | NP_001336796.1:n.1669-6C>T | |
| NM_001349868.1:c.1525-6C>T | NP_001336797.1:n.1525-6C>T | |
| NM_001349869.1:c.1507-6C>T | NP_001336798.1:n.1507-6C>T | |
| NM_003560.3:c.2203-6C>T | NP_003551.2:n.2203-6C>T | |
| XM_005261764.3:c.2203-6C>T | XP_005261821.1:n.2203-6C>T | |
| XM_005261765.2:c.2203-6C>T | XP_005261822.1:n.2203-6C>T | |
| XM_006724332.4:c.2203-6C>T | XP_006724395.1:n.2203-6C>T | |
| XM_017028983.1:c.1507-6C>T | XP_016884472.1:n.1507-6C>T | |
| XM_024452280.1:c.1669-6C>T | XP_024308048.1:n.1669-6C>T | |
| XM_024452281.1:c.1669-6C>T | XP_024308049.1:n.1669-6C>T | |
| XM_024452282.1:c.1669-6C>T | XP_024308050.1:n.1669-6C>T | |
| XM_024452283.1:c.1525-6C>T | XP_024308051.1:n.1525-6C>T | |
| XM_024452284.1:c.1507-6C>T | XP_024308052.1:n.1507-6C>T | |
| XM_024452285.1:c.1507-6C>T | XP_024308053.1:n.1507-6C>T | |
| XR_001755325.2:n.2386-6C>T | ||
| XR_001755327.2:n.2381-6C>T | ||
| XR_001755328.2:n.2347-6C>T | ||
| NM_001199562.3:c.2041-6C>T | NP_001186491.1:n.2041-6C>T | |
| NM_001349864.2:c.2203-6C>T | NP_001336793.1:n.2203-6C>T | |
| NM_001349865.2:c.2041-6C>T | NP_001336794.1:n.2041-6C>T | |
| NM_001349866.2:c.2041-6C>T | NP_001336795.1:n.2041-6C>T | |
| NM_001349867.2:c.1669-6C>T | NP_001336796.1:n.1669-6C>T | |
| NM_001349868.2:c.1525-6C>T | NP_001336797.1:n.1525-6C>T | |
| NM_001349869.2:c.1507-6C>T | NP_001336798.1:n.1507-6C>T | |
| NM_003560.4:c.2203-6C>T MANE Select | NP_003551.2:n.2203-6C>T | |
| NM_001004426.3:c.2041-6C>T | NP_001004426.1:n.2041-6C>T |