Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150977896G= , CM000669.2:g.150977896G= | GRCh38 |
| NC_000007.13:g.150674984G= , CM000669.1:g.150674984G= | GRCh37 |
| NC_000007.12:g.150305917G= | NCBI36 |
| NG_008916.1:g.5031C= , LRG_288:g.5031C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.18C= MANE Select | ENSP00000262186.5:p.Gly6= | |
| ENST00000262186.9:c.18C= | ENSP00000262186.5:p.Gly6= | |
| ENST00000430723.4:c.-160C= | ENSP00000387657.4:n.-160C= | |
| ENST00000532957.5:n.241C= | ||
| NM_000238.3:c.18C= , LRG_288t1:c.18C= | NP_000229.1:p.Gly6= | |
| NM_172056.2:c.18C= , LRG_288t2:c.18C= | NP_742053.1:p.Gly6= | |
| XM_011516186.1:c.18C= | XP_011514488.1:p.Gly6= | |
| XM_011516186.3:c.18C= | XP_011514488.1:p.Gly6= | |
| NM_000238.4:c.18C= MANE Select | NP_000229.1:p.Gly6= |