Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887081G= , CM000681.2:g.12887081G= | GRCh38 |
| NC_000019.9:g.12997895G= , CM000681.1:g.12997895G= | GRCh37 |
| NC_000019.8:g.12858895G= | NCBI36 |
| NG_009292.1:g.922G= | |
| NG_013087.1:g.5123C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.60C= MANE Select | ENSP00000264834.3:p.Phe20= | |
| ENST00000264834.4:c.60C= | ENSP00000264834.3:p.Phe20= | |
| NM_006563.3:c.60C= | NP_006554.1:p.Phe20= | |
| XM_011527642.1:c.-144C= | XP_011525944.1:n.-144C= | |
| NM_006563.4:c.60C= | NP_006554.1:p.Phe20= | |
| XM_011527642.2:c.-144C= | XP_011525944.1:n.-144C= | |
| NM_006563.5:c.60C= MANE Select | NP_006554.1:p.Phe20= |