Linked Data
ClinVar Variation Id:
432654
dbSNP Id:
rs1021045841
gnomAD v2:
13-25479747-T-A
gnomAD v3:
13-24905609-T-A
gnomAD v4:
13-24905609-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24905609T>A , CM000675.2:g.24905609T>A | GRCh38 |
| NC_000013.10:g.25479747T>A , CM000675.1:g.25479747T>A | GRCh37 |
| NC_000013.9:g.24377747T>A | NCBI36 |
| NG_009165.2:g.22339A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.2429A>T MANE Select | ENSP00000371308.4:p.Asp810Val | |
| ENST00000545981.6:c.2429A>T | ENSP00000441090.2:p.Asp810Val | |
| ENST00000381884.8:c.2429A>T | ENSP00000371308.4:p.Asp810Val | |
| ENST00000545981.5:c.2429A>T | ENSP00000441090.2:p.Asp810Val | |
| ENST00000616936.4:c.2429A>T | ENSP00000477511.1:p.Asp810Val | |
| NM_018451.4:c.2429A>T | NP_060921.3:p.Asp810Val | |
| NR_047594.1:n.2624A>T | ||
| NR_047595.1:n.2624A>T | ||
| XM_011535149.1:c.2429A>T | XP_011533451.1:p.Asp810Val | |
| XM_011535150.1:c.2429A>T | XP_011533452.1:p.Asp810Val | |
| XM_011535151.1:c.2429A>T | XP_011533453.1:p.Asp810Val | |
| XR_941627.1:n.2624A>T | ||
| XR_941628.1:n.2624A>T | ||
| XM_011535149.2:c.2429A>T | XP_011533451.1:p.Asp810Val | |
| XM_011535150.2:c.2429A>T | XP_011533452.1:p.Asp810Val | |
| XM_017020673.1:c.2429A>T | XP_016876162.1:p.Asp810Val | |
| NM_018451.5:c.2429A>T MANE Select | NP_060921.3:p.Asp810Val | |
| NR_047594.2:n.2596A>T | ||
| NR_047595.2:n.2596A>T |