Linked Data
ClinVar Variation Id:
2189341
ClinVar RCV Id:
RCV002607283
dbSNP Id:
rs556168142
ExAC:
15:48427124 C / T
gnomAD v2:
15-48427124-C-T
gnomAD v3:
15-48134927-C-T
gnomAD v4:
15-48134927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48134927C>T , CM000677.2:g.48134927C>T | GRCh38 |
| NC_000015.9:g.48427124C>T , CM000677.1:g.48427124C>T | GRCh37 |
| NC_000015.8:g.46214416C>T | NCBI36 |
| NG_011500.1:g.18956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324324.12:c.*7981G>A (MYEF2) MANE Select | ENSP00000316950.7:n.*7981G>A | |
| ENST00000341459.8:c.533C>T (SLC24A5) MANE Select | ENSP00000341550.3:p.Ala178Val | |
| ENST00000324324.11:c.*7981G>A (MYEF2) | ENSP00000316950.7:n.*7981G>A | |
| ENST00000341459.7:c.533C>T (SLC24A5) | ENSP00000341550.3:p.Ala178Val | |
| ENST00000449382.2:c.353C>T (SLC24A5) | ENSP00000389966.2:p.Ala118Val | |
| ENST00000463289.1:n.293C>T (SLC24A5) | ||
| NM_205850.2:c.533C>T (SLC24A5) | NP_995322.1:p.Ala178Val | |
| XM_011521458.1:c.554C>T (SLC24A5) | XP_011519760.1:p.Ala185Val | |
| XM_005254425.4:c.*8136G>A (MYEF2) | XP_005254482.2:n.*8136G>A | |
| XM_017022079.1:c.287C>T (SLC24A5) | XP_016877568.1:p.Ala96Val | |
| XM_017022080.1:c.287C>T (SLC24A5) | XP_016877569.1:p.Ala96Val | |
| XM_017022285.1:c.*8136G>A (MYEF2) | XP_016877774.1:n.*8136G>A | |
| XM_017022286.1:c.*8136G>A (MYEF2) | XP_016877775.1:n.*8136G>A | |
| XM_017022287.1:c.*8136G>A (MYEF2) | XP_016877776.1:n.*8136G>A | |
| XM_017022291.1:c.*8136G>A (MYEF2) | XP_016877780.1:n.*8136G>A | |
| XM_017022292.1:c.*8136G>A (MYEF2) | XP_016877781.1:n.*8136G>A | |
| XM_024449901.1:c.194C>T (SLC24A5) | XP_024305669.1:p.Ala65Val | |
| NM_016132.5:c.*7981G>A (MYEF2) MANE Select | NP_057216.3:n.*7981G>A | |
| NM_001301210.2:c.*7981G>A (MYEF2) | NP_001288139.2:n.*7981G>A | |
| NM_205850.3:c.533C>T (SLC24A5) MANE Select | NP_995322.1:p.Ala178Val |