Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3606679G>A , CM000678.2:g.3606679G>A | GRCh38 |
| NC_000016.9:g.3656680G>A , CM000678.1:g.3656680G>A | GRCh37 |
| NC_000016.8:g.3596681G>A | NCBI36 |
| NG_028123.1:g.9906C>T , LRG_503:g.9906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.555C>T MANE Select | ENSP00000294008.3:p.Asp185= | |
| ENST00000294008.3:c.555C>T | ENSP00000294008.3:p.Asp185= | |
| ENST00000466154.5:n.850C>T | ||
| ENST00000486524.1:n.1183C>T | ||
| NM_032444.2:c.555C>T , LRG_503t1:c.555C>T | NP_115820.2:p.Asp185= | |
| XM_011522715.1:c.555C>T | XP_011521017.1:p.Asp185= | |
| NM_032444.3:c.555C>T | NP_115820.2:p.Asp185= | |
| XM_011522715.3:c.555C>T | XP_011521017.1:p.Asp185= | |
| XM_024450471.1:c.555C>T | XP_024306239.1:p.Asp185= | |
| NM_032444.4:c.555C>T MANE Select | NP_115820.2:p.Asp185= |