Linked Data
dbSNP Id:
rs1947974432
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307355A>T , CM000673.2:g.121307355A>T | GRCh38 |
| NC_000011.9:g.121178064A>T , CM000673.1:g.121178064A>T | GRCh37 |
| NC_000011.8:g.120683274A>T | NCBI36 |
| NG_009446.1:g.19677A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.743A>T MANE Select | ENSP00000264027.4:p.Asp248Val | |
| ENST00000264027.8:c.743A>T | ENSP00000264027.4:p.Asp248Val | |
| ENST00000392789.2:c.743A>T | ENSP00000376539.2:p.Asp248Val | |
| ENST00000527183.1:n.1036A>T | ||
| ENST00000534230.5:c.632-102A>T | ENSP00000432550.1:n.632-102A>T | |
| NM_001024956.2:c.743A>T | NP_001020127.1:p.Asp248Val | |
| NM_006918.4:c.743A>T | NP_008849.2:p.Asp248Val | |
| NM_006918.5:c.743A>T MANE Select | NP_008849.2:p.Asp248Val | |
| NM_001024956.3:c.743A>T | NP_001020127.1:p.Asp248Val |