Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174725008C= , CM000667.2:g.174725008C= | GRCh38 |
| NC_000005.9:g.174152011C= , CM000667.1:g.174152011C= | GRCh37 |
| NC_000005.8:g.174084617C= | NCBI36 |
| NG_008124.1:g.5437C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.349C= MANE Select | ENSP00000239243.5:p.Gln117= | |
| ENST00000239243.6:c.349C= | ENSP00000239243.5:p.Gln117= | |
| ENST00000507785.2:c.349C= | ENSP00000427425.1:p.Gln117= | |
| NM_002449.4:c.349C= | NP_002440.2:p.Gln117= | |
| NM_001363626.1:c.349C= | NP_001350555.1:p.Gln117= | |
| NM_002449.5:c.349C= MANE Select | NP_002440.2:p.Gln117= | |
| NM_001363626.2:c.349C= | NP_001350555.1:p.Gln117= |