Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.920746T>C , CM000681.2:g.920746T>C | GRCh38 |
| NC_000019.9:g.920746T>C , CM000681.1:g.920746T>C | GRCh37 |
| NC_000019.8:g.871746T>C | NCBI36 |
| NG_008277.1:g.8405T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234371.10:c.1195T>C MANE Select | ENSP00000234371.3:p.Ter399Arg | |
| ENST00000234371.9:c.1195T>C | ENSP00000234371.3:p.Ter399Arg | |
| ENST00000606939.2:c.962T>C | ENSP00000475639.1:n.962T>C | |
| NM_032551.4:c.1195T>C | NP_115940.2:p.Ter399Arg | |
| NM_032551.5:c.1195T>C MANE Select | NP_115940.2:p.Ter399Arg |