Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169479570C>T , CM000664.2:g.169479570C>T | GRCh38 |
| NC_000002.11:g.170336080C>T , CM000664.1:g.170336080C>T | GRCh37 |
| NC_000002.10:g.170044326C>T | NCBI36 |
| NG_011567.1:g.5075C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.17C>T MANE Select | ENSP00000295240.3:p.Ala6Val | |
| ENST00000295240.7:c.17C>T | ENSP00000295240.3:p.Ala6Val | |
| ENST00000392663.6:c.17C>T | ENSP00000376431.2:p.Ala6Val | |
| ENST00000443151.1:c.17C>T | ENSP00000406182.1:p.Ala6Val | |
| ENST00000469980.1:n.91C>T | ||
| ENST00000513963.1:c.17C>T | ENSP00000424363.1:p.Ala6Val | |
| NM_152384.2:c.17C>T | NP_689597.1:p.Ala6Val | |
| NM_152384.3:c.17C>T MANE Select | NP_689597.1:p.Ala6Val |