Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169492978T>G , CM000664.2:g.169492978T>G | GRCh38 |
| NC_000002.11:g.170349488T>G , CM000664.1:g.170349488T>G | GRCh37 |
| NC_000002.10:g.170057734T>G | NCBI36 |
| NG_011567.1:g.18483T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.491T>G MANE Select | ENSP00000295240.3:p.Ile164Arg | |
| ENST00000295240.7:c.491T>G | ENSP00000295240.3:p.Ile164Arg | |
| ENST00000392663.6:c.491T>G | ENSP00000376431.2:p.Ile164Arg | |
| ENST00000443151.1:c.*213T>G | ENSP00000406182.1:n.*213T>G | |
| ENST00000475571.1:n.458T>G | ||
| ENST00000513963.1:c.491T>G | ENSP00000424363.1:p.Ile164Arg | |
| NM_152384.2:c.491T>G | NP_689597.1:p.Ile164Arg | |
| NM_152384.3:c.491T>G MANE Select | NP_689597.1:p.Ile164Arg |