Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130452227C= , CM000671.2:g.130452227C= | GRCh38 |
| NC_000009.11:g.133327614C= , CM000671.1:g.133327614C= | GRCh37 |
| NC_000009.10:g.132317435C= | NCBI36 |
| NG_011542.1:g.12521C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.-2C= MANE Select | ENSP00000253004.6:n.-2C= | |
| ENST00000352480.9:c.-2C= | ENSP00000253004.6:n.-2C= | |
| ENST00000372393.7:c.-2C= | ENSP00000361469.2:n.-2C= | |
| ENST00000372394.5:c.-2C= | ENSP00000361471.1:n.-2C= | |
| ENST00000422569.5:c.-2C= | ENSP00000394212.1:n.-2C= | |
| ENST00000443588.1:c.-2C= | ENSP00000397785.1:n.-2C= | |
| NM_000050.4:c.-2C= | NP_000041.2:n.-2C= | |
| NM_054012.3:c.-2C= | NP_446464.1:n.-2C= | |
| XM_005272200.2:c.-2C= | XP_005272257.1:n.-2C= | |
| XM_011518705.1:c.113C= | XP_011517007.1:p.Ala38= | |
| XM_005272200.3:c.-2C= | XP_005272257.1:n.-2C= | |
| XM_011518705.2:c.113C= | XP_011517007.1:p.Ala38= | |
| XM_017014729.1:c.95C= | XP_016870218.1:p.Ala32= | |
| NM_054012.4:c.-2C= MANE Select | NP_446464.1:n.-2C= |