Linked Data
ClinVar Variation Id:
9172
ClinVar RCV Id:
RCV000009745
dbSNP Id:
rs104893931
PubMed:
PMID:15580564
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70938888A>T , CM000667.2:g.70938888A>T | GRCh38 |
| NC_000005.9:g.70234715A>T , CM000667.1:g.70234715A>T | GRCh37 |
| NC_000005.8:g.70270471A>T | NCBI36 |
| NG_008691.1:g.18948A>T , LRG_676:g.18948A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380707.9:c.131A>T MANE Select | ENSP00000370083.4:p.Asp44Val | |
| ENST00000351205.8:c.131A>T | ENSP00000305857.5:p.Asp44Val | |
| ENST00000380707.8:c.131A>T | ENSP00000370083.4:p.Asp44Val | |
| ENST00000503079.6:c.131A>T | ENSP00000428128.1:p.Asp44Val | |
| ENST00000506163.5:c.131A>T | ENSP00000424926.1:p.Asp44Val | |
| ENST00000506239.6:c.131A>T | ENSP00000422679.2:p.Asp44Val | |
| ENST00000514951.5:c.131A>T | ENSP00000423298.1:p.Asp44Val | |
| ENST00000625245.2:c.131A>T | ENSP00000486539.1:p.Asp44Val | |
| NM_000344.3:c.131A>T , LRG_676t1:c.131A>T | NP_000335.1:p.Asp44Val | |
| NM_001297715.1:c.131A>T | NP_001284644.1:p.Asp44Val | |
| NM_022874.2:c.131A>T | NP_075012.1:p.Asp44Val | |
| XM_011543596.1:c.131A>T | XP_011541898.1:p.Asp44Val | |
| XM_011543597.1:c.131A>T | XP_011541899.1:p.Asp44Val | |
| XM_011543598.1:c.131A>T | XP_011541900.1:p.Asp44Val | |
| XM_011543598.3:c.131A>T | XP_011541900.1:p.Asp44Val | |
| XM_017009786.1:c.131A>T | XP_016865275.1:p.Asp44Val | |
| NM_000344.4:c.131A>T MANE Select | NP_000335.1:p.Asp44Val |