Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67437049T= , CM000678.2:g.67437049T= | GRCh38 |
| NC_000016.9:g.67470952T= , CM000678.1:g.67470952T= | GRCh37 |
| NC_000016.8:g.66028453T= | NCBI36 |
| NG_011482.1:g.49138A= | |
| NG_016549.1:g.10917T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.*46T= MANE Select | ENSP00000316786.5:n.*46T= | |
| ENST00000326152.5:c.*46T= | ENSP00000316786.5:n.*46T= | |
| NM_000196.3:c.*46T= | NP_000187.3:n.*46T= | |
| NM_000196.4:c.*46T= MANE Select | NP_000187.3:n.*46T= |