Linked Data
ClinVar Variation Id:
263272
dbSNP Id:
rs76547866
ExAC:
15:48433306 A / T
gnomAD v2:
15-48433306-A-T
gnomAD v3:
15-48141109-A-T
gnomAD v4:
15-48141109-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48141109A>T , CM000677.2:g.48141109A>T | GRCh38 |
| NC_000015.9:g.48433306A>T , CM000677.1:g.48433306A>T | GRCh37 |
| NC_000015.8:g.46220598A>T | NCBI36 |
| NG_011500.1:g.25138A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324324.12:c.*1799T>A (MYEF2) MANE Select | ENSP00000316950.7:n.*1799T>A | |
| ENST00000341459.8:c.1079-4A>T (SLC24A5) MANE Select | ENSP00000341550.3:n.1079-4A>T | |
| ENST00000324324.11:c.*1799T>A (MYEF2) | ENSP00000316950.7:n.*1799T>A | |
| ENST00000341459.7:c.1079-4A>T (SLC24A5) | ENSP00000341550.3:n.1079-4A>T | |
| ENST00000449382.2:c.899-4A>T (SLC24A5) | ENSP00000389966.2:n.899-4A>T | |
| ENST00000558289.5:n.2839T>A (MYEF2) | ||
| NM_001301210.1:c.*1799T>A (MYEF2) | NP_001288139.1:n.*1799T>A | |
| NM_016132.4:c.*1799T>A (MYEF2) | NP_057216.2:n.*1799T>A | |
| NM_205850.2:c.1079-4A>T (SLC24A5) | NP_995322.1:n.1079-4A>T | |
| XM_005254422.3:c.*1799T>A (MYEF2) | XP_005254479.2:n.*1799T>A | |
| XM_005254424.3:c.*1799T>A (MYEF2) | XP_005254481.2:n.*1799T>A | |
| XM_005254425.3:c.*1954T>A (MYEF2) | XP_005254482.2:n.*1954T>A | |
| XM_006720553.2:c.*1799T>A (MYEF2) | XP_006720616.1:n.*1799T>A | |
| XM_011521458.1:c.1100-4A>T (SLC24A5) | XP_011519760.1:n.1100-4A>T | |
| XM_011521657.1:c.*1799T>A (MYEF2) | XP_011519959.1:n.*1799T>A | |
| XM_005254422.4:c.*1799T>A (MYEF2) | XP_005254479.2:n.*1799T>A | |
| XM_005254424.4:c.*1799T>A (MYEF2) | XP_005254481.2:n.*1799T>A | |
| XM_005254425.4:c.*1954T>A (MYEF2) | XP_005254482.2:n.*1954T>A | |
| XM_006720553.3:c.*1799T>A (MYEF2) | XP_006720616.1:n.*1799T>A | |
| XM_011521657.2:c.*1799T>A (MYEF2) | XP_011519959.1:n.*1799T>A | |
| XM_017022079.1:c.833-4A>T (SLC24A5) | XP_016877568.1:n.833-4A>T | |
| XM_017022080.1:c.833-4A>T (SLC24A5) | XP_016877569.1:n.833-4A>T | |
| XM_017022285.1:c.*1954T>A (MYEF2) | XP_016877774.1:n.*1954T>A | |
| XM_017022286.1:c.*1954T>A (MYEF2) | XP_016877775.1:n.*1954T>A | |
| XM_017022287.1:c.*1954T>A (MYEF2) | XP_016877776.1:n.*1954T>A | |
| XM_017022288.1:c.*1799T>A (MYEF2) | XP_016877777.1:n.*1799T>A | |
| XM_017022289.1:c.*1799T>A (MYEF2) | XP_016877778.1:n.*1799T>A | |
| XM_017022290.1:c.*1799T>A (MYEF2) | XP_016877779.1:n.*1799T>A | |
| XM_017022291.1:c.*1954T>A (MYEF2) | XP_016877780.1:n.*1954T>A | |
| XM_017022292.1:c.*1954T>A (MYEF2) | XP_016877781.1:n.*1954T>A | |
| XM_024449901.1:c.740-4A>T (SLC24A5) | XP_024305669.1:n.740-4A>T | |
| NM_016132.5:c.*1799T>A (MYEF2) MANE Select | NP_057216.3:n.*1799T>A | |
| NM_001301210.2:c.*1799T>A (MYEF2) | NP_001288139.2:n.*1799T>A | |
| NM_205850.3:c.1079-4A>T (SLC24A5) MANE Select | NP_995322.1:n.1079-4A>T |