Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51347006C= , CM000681.2:g.51347006C= | GRCh38 |
| NC_000019.9:g.51850260C= , CM000681.1:g.51850260C= | GRCh37 |
| NC_000019.8:g.56542072C= | NCBI36 |
| NG_007115.1:g.24413G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001985.3:c.491G= MANE Select | NP_001976.1:p.Arg164= |
| ENST00000309244.9:c.491G= MANE Select | ENSP00000311930.3:p.Arg164= |
| NM_001014763.1:c.764G= | NP_001014763.1:p.Arg255= |
| NM_001985.2:c.491G= | NP_001976.1:p.Arg164= |
| ENST00000309244.8:c.491G= | ENSP00000311930.3:p.Arg164= |
| ENST00000354232.8:c.764G= | ENSP00000346173.3:p.Arg255= |
| ENST00000594361.1:n.1525G= | |
| ENST00000596253.1:c.332G= | ENSP00000469628.1:p.Arg111= |
| XM_024451418.1:c.380G= | XP_024307186.1:p.Arg127= |