Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20990471A= , CM000684.2:g.20990471A= | GRCh38 |
| NC_000022.10:g.21344760A= , CM000684.1:g.21344760A= | GRCh37 |
| NC_000022.9:g.19674760A= | NCBI36 |
| NG_034193.1:g.13203A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.737A= MANE Select | NP_006758.2:p.Gln246= |
| ENST00000646124.2:c.737A= MANE Select | ENSP00000496779.1:p.Gln246= |
| NM_006767.3:c.737A= | NP_006758.2:p.Gln246= |
| ENST00000215739.12:c.737A= | ENSP00000215739.8:p.Gln246= |
| ENST00000414985.5:c.*303A= | ENSP00000397247.1:n.*303A= |
| ENST00000479606.5:n.883A= | |
| ENST00000480895.1:n.433A= | |
| ENST00000497716.5:n.120A= | |
| ENST00000642151.1:c.568A= | |
| ENST00000644435.1:c.559A= | |
| ENST00000646506.1:n.316A= | |
| ENST00000700578.1:c.737A= | ENSP00000515073.1:p.Gln246= |