Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124503378G= , CM000671.2:g.124503378G= | GRCh38 |
| NC_000009.11:g.127265657G= , CM000671.1:g.127265657G= | GRCh37 |
| NC_000009.10:g.126305478G= | NCBI36 |
| NG_008176.1:g.9043C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004959.5:c.18C= MANE Select | NP_004950.2:p.Asp6= |
| ENST00000373588.9:c.18C= MANE Select | ENSP00000362690.4:p.Asp6= |
| NM_004959.4:c.18C= | NP_004950.2:p.Asp6= |
| ENST00000373588.8:c.18C= | ENSP00000362690.4:p.Asp6= |
| ENST00000455734.1:c.18C= | ENSP00000393245.1:p.Asp6= |
| ENST00000620110.4:c.18C= | ENSP00000483309.1:p.Asp6= |
| XM_005251871.2:c.18C= | XP_005251928.1:p.Asp6= |
| XM_005251872.3:c.-102C= | XP_005251929.1:n.-102C= |
| XM_011518455.1:c.18C= | XP_011516757.1:p.Asp6= |
| XM_011518456.1:c.18C= | XP_011516758.1:p.Asp6= |