Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675809T= , CM000685.2:g.38675809T= | GRCh38 |
| NC_000023.10:g.38535063T= , CM000685.1:g.38535063T= | GRCh37 |
| NC_000023.9:g.38420007T= | NCBI36 |
| NG_009160.1:g.119333T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.546T= MANE Select | ENSP00000367743.2:p.Asn182= | |
| ENST00000286824.6:c.597T= | ENSP00000286824.6:p.Asn199= | |
| ENST00000378482.6:c.546T= | ENSP00000367743.2:p.Asn182= | |
| ENST00000419600.3:n.490T= | ||
| ENST00000465127.1:c.636T= | ENSP00000417050.1:p.Asn212= | |
| ENST00000471410.5:c.*572T= | ENSP00000419290.1:n.*572T= | |
| ENST00000475216.5:c.*539T= | ENSP00000418586.1:n.*539T= | |
| ENST00000488893.5:n.729T= | ||
| NM_004615.3:c.546T= | NP_004606.2:p.Asn182= | |
| NM_004615.4:c.546T= MANE Select | NP_004606.2:p.Asn182= |