Linked Data
ClinVar Variation Id:
969644
ClinVar RCV Id:
RCV001245036
dbSNP Id:
rs1008232313
gnomAD v4:
19-43508783-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43508783T>A , CM000681.2:g.43508783T>A | GRCh38 |
| NC_000019.9:g.44012935T>A , CM000681.1:g.44012935T>A | GRCh37 |
| NC_000019.8:g.48704775T>A | NCBI36 |
| NG_008141.1:g.23462A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.587A>T MANE Select | ENSP00000292147.1:p.Asp196Val | |
| ENST00000292147.6:c.587A>T | ENSP00000292147.1:p.Asp196Val | |
| ENST00000594342.5:c.*150A>T | ENSP00000469652.1:n.*150A>T | |
| ENST00000598330.1:c.*150A>T | ENSP00000469219.1:n.*150A>T | |
| ENST00000600651.5:c.587A>T | ENSP00000469037.1:p.Asp196Val | |
| NM_014297.3:c.587A>T | NP_055112.2:p.Asp196Val | |
| XM_005258687.2:c.506A>T | XP_005258744.1:p.Asp169Val | |
| XM_005258688.2:c.218A>T | XP_005258745.1:p.Asp73Val | |
| XM_011526685.1:c.308A>T | XP_011524987.1:p.Asp103Val | |
| NM_001320867.1:c.554A>T | NP_001307796.1:p.Asp185Val | |
| NM_001320868.1:c.218A>T | NP_001307797.1:p.Asp73Val | |
| NM_001320869.1:c.293A>T | NP_001307798.1:p.Asp98Val | |
| NM_014297.4:c.587A>T | NP_055112.2:p.Asp196Val | |
| XM_005258687.4:c.506A>T | XP_005258744.1:p.Asp169Val | |
| NM_014297.5:c.587A>T MANE Select | NP_055112.2:p.Asp196Val | |
| NM_001320867.2:c.554A>T | NP_001307796.1:p.Asp185Val | |
| NM_001320868.2:c.218A>T | NP_001307797.1:p.Asp73Val | |
| NM_001320869.2:c.293A>T | NP_001307798.1:p.Asp98Val |