Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474956C= , CM000684.2:g.32474956C= | GRCh38 |
| NC_000022.10:g.32870943C= , CM000684.1:g.32870943C= | GRCh37 |
| NC_000022.9:g.31200943C= | NCBI36 |
| NG_016001.1:g.5237C= | |
| NG_016001.2:g.5237C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.-47C= MANE Select | ENSP00000266087.7:n.-47C= | |
| ENST00000266087.11:c.-47C= | ENSP00000266087.7:n.-47C= | |
| ENST00000420700.5:c.-47C= | ENSP00000406155.1:n.-47C= | |
| ENST00000425028.5:c.-47C= | ENSP00000395823.1:n.-47C= | |
| NM_012179.3:c.-47C= | NP_036311.3:n.-47C= | |
| XM_011530106.1:c.-220C= | XP_011528408.1:n.-220C= | |
| XM_024452207.1:c.-237C= | XP_024307975.1:n.-237C= | |
| NM_012179.4:c.-47C= MANE Select | NP_036311.3:n.-47C= |