Linked Data
ClinVar Variation Id:
284318
dbSNP Id:
rs138902406
ExAC:
15:48427125 G / A
gnomAD v2:
15-48427125-G-A
gnomAD v3:
15-48134928-G-A
gnomAD v4:
15-48134928-G-A
COSMIC:
COSM2189943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48134928G>A , CM000677.2:g.48134928G>A | GRCh38 |
| NC_000015.9:g.48427125G>A , CM000677.1:g.48427125G>A | GRCh37 |
| NC_000015.8:g.46214417G>A | NCBI36 |
| NG_011500.1:g.18957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324324.12:c.*7980C>T (MYEF2) MANE Select | ENSP00000316950.7:n.*7980C>T | |
| ENST00000341459.8:c.534G>A (SLC24A5) MANE Select | ENSP00000341550.3:p.Ala178= | |
| ENST00000324324.11:c.*7980C>T (MYEF2) | ENSP00000316950.7:n.*7980C>T | |
| ENST00000341459.7:c.534G>A (SLC24A5) | ENSP00000341550.3:p.Ala178= | |
| ENST00000449382.2:c.354G>A (SLC24A5) | ENSP00000389966.2:p.Ala118= | |
| ENST00000463289.1:n.294G>A (SLC24A5) | ||
| NM_205850.2:c.534G>A (SLC24A5) | NP_995322.1:p.Ala178= | |
| XM_011521458.1:c.555G>A (SLC24A5) | XP_011519760.1:p.Ala185= | |
| XM_005254425.4:c.*8135C>T (MYEF2) | XP_005254482.2:n.*8135C>T | |
| XM_017022079.1:c.288G>A (SLC24A5) | XP_016877568.1:p.Ala96= | |
| XM_017022080.1:c.288G>A (SLC24A5) | XP_016877569.1:p.Ala96= | |
| XM_017022285.1:c.*8135C>T (MYEF2) | XP_016877774.1:n.*8135C>T | |
| XM_017022286.1:c.*8135C>T (MYEF2) | XP_016877775.1:n.*8135C>T | |
| XM_017022287.1:c.*8135C>T (MYEF2) | XP_016877776.1:n.*8135C>T | |
| XM_017022291.1:c.*8135C>T (MYEF2) | XP_016877780.1:n.*8135C>T | |
| XM_017022292.1:c.*8135C>T (MYEF2) | XP_016877781.1:n.*8135C>T | |
| XM_024449901.1:c.195G>A (SLC24A5) | XP_024305669.1:p.Ala65= | |
| NM_016132.5:c.*7980C>T (MYEF2) MANE Select | NP_057216.3:n.*7980C>T | |
| NM_001301210.2:c.*7980C>T (MYEF2) | NP_001288139.2:n.*7980C>T | |
| NM_205850.3:c.534G>A (SLC24A5) MANE Select | NP_995322.1:p.Ala178= |