Linked Data
ClinVar Variation Id:
60559
ClinVar RCV Id:
RCV000054447
dbSNP Id:
rs886037643
PubMed:
PMID:23364476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48136683G>A , CM000677.2:g.48136683G>A | GRCh38 |
| NC_000015.9:g.48428880G>A , CM000677.1:g.48428880G>A | GRCh37 |
| NC_000015.8:g.46216172G>A | NCBI36 |
| NG_011500.1:g.20712G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324324.12:c.*6225C>T (MYEF2) MANE Select | ENSP00000316950.7:n.*6225C>T | |
| ENST00000341459.8:c.591G>A (SLC24A5) MANE Select | ENSP00000341550.3:p.Trp197Ter | |
| ENST00000324324.11:c.*6225C>T (MYEF2) | ENSP00000316950.7:n.*6225C>T | |
| ENST00000341459.7:c.591G>A (SLC24A5) | ENSP00000341550.3:p.Trp197Ter | |
| ENST00000449382.2:c.411G>A (SLC24A5) | ENSP00000389966.2:p.Trp137Ter | |
| ENST00000463289.1:n.351G>A (SLC24A5) | ||
| NM_205850.2:c.591G>A (SLC24A5) | NP_995322.1:p.Trp197Ter | |
| XM_011521458.1:c.612G>A (SLC24A5) | XP_011519760.1:p.Trp204Ter | |
| XM_005254425.4:c.*6380C>T (MYEF2) | XP_005254482.2:n.*6380C>T | |
| XM_017022079.1:c.345G>A (SLC24A5) | XP_016877568.1:p.Trp115Ter | |
| XM_017022080.1:c.345G>A (SLC24A5) | XP_016877569.1:p.Trp115Ter | |
| XM_017022285.1:c.*6380C>T (MYEF2) | XP_016877774.1:n.*6380C>T | |
| XM_017022286.1:c.*6380C>T (MYEF2) | XP_016877775.1:n.*6380C>T | |
| XM_017022287.1:c.*6380C>T (MYEF2) | XP_016877776.1:n.*6380C>T | |
| XM_017022291.1:c.*6380C>T (MYEF2) | XP_016877780.1:n.*6380C>T | |
| XM_017022292.1:c.*6380C>T (MYEF2) | XP_016877781.1:n.*6380C>T | |
| XM_024449901.1:c.252G>A (SLC24A5) | XP_024305669.1:p.Trp84Ter | |
| NM_016132.5:c.*6225C>T (MYEF2) MANE Select | NP_057216.3:n.*6225C>T | |
| NM_001301210.2:c.*6225C>T (MYEF2) | NP_001288139.2:n.*6225C>T | |
| NM_205850.3:c.591G>A (SLC24A5) MANE Select | NP_995322.1:p.Trp197Ter |