Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124503303C= , CM000671.2:g.124503303C= | GRCh38 |
| NC_000009.11:g.127265582C= , CM000671.1:g.127265582C= | GRCh37 |
| NC_000009.10:g.126305403C= | NCBI36 |
| NG_008176.1:g.9118G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373588.9:c.93G= MANE Select | ENSP00000362690.4:p.Glu31= | |
| ENST00000373588.8:c.93G= | ENSP00000362690.4:p.Glu31= | |
| ENST00000455734.1:c.93G= | ENSP00000393245.1:p.Glu31= | |
| ENST00000620110.4:c.93G= | ENSP00000483309.1:p.Glu31= | |
| NM_004959.4:c.93G= | NP_004950.2:p.Glu31= | |
| XM_005251871.2:c.93G= | XP_005251928.1:p.Glu31= | |
| XM_005251872.3:c.-27G= | XP_005251929.1:n.-27G= | |
| XM_011518455.1:c.93G= | XP_011516757.1:p.Glu31= | |
| XM_011518456.1:c.93G= | XP_011516758.1:p.Glu31= | |
| NM_004959.5:c.93G= MANE Select | NP_004950.2:p.Glu31= |