Linked Data
ClinVar Variation Id:
30220
ClinVar RCV Id:
RCV000023143
dbSNP Id:
rs387906821
PubMed:
PMID:19690585
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38924491A>T , CM000667.2:g.38924491A>T | GRCh38 |
| NC_000005.9:g.38924593A>T , CM000667.1:g.38924593A>T | GRCh37 |
| NC_000005.8:g.38960350A>T | NCBI36 |
| NG_016236.1:g.83634A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274276.8:c.1940A>T MANE Select | ENSP00000274276.3:p.Asp647Val | |
| ENST00000274276.7:c.1940A>T | ENSP00000274276.3:p.Asp647Val | |
| NM_003999.2:c.1940A>T | NP_003990.1:p.Asp647Val | |
| XM_005248384.1:c.1943A>T | XP_005248441.1:p.Asp648Val | |
| XM_005248385.1:c.1943A>T | XP_005248442.1:p.Asp648Val | |
| XM_011514161.1:c.1943A>T | XP_011512463.1:p.Asp648Val | |
| XR_925661.1:n.2332A>T | ||
| NM_001323505.1:c.1940A>T | NP_001310434.1:p.Asp647Val | |
| NM_001323506.1:c.1943A>T | NP_001310435.1:p.Asp648Val | |
| XM_011514161.2:c.1943A>T | XP_011512463.1:p.Asp648Val | |
| XM_017010019.1:c.1940A>T | XP_016865508.1:p.Asp647Val | |
| NM_003999.3:c.1940A>T MANE Select | NP_003990.1:p.Asp647Val | |
| NM_001323505.2:c.1940A>T | NP_001310434.1:p.Asp647Val | |
| NM_001323506.2:c.1943A>T | NP_001310435.1:p.Asp648Val |