Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46896052A= , CM000675.2:g.46896052A= | GRCh38 |
| NC_000013.10:g.47470187A= , CM000675.1:g.47470187A= | GRCh37 |
| NC_000013.9:g.46368188A= | NCBI36 |
| NG_013011.1:g.5983T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.-146T= MANE Select | ENSP00000437737.1:n.-146T= | |
| ENST00000543956.5:c.-78+622T= | ENSP00000441861.2:n.-78+622T= | |
| ENST00000542664.3:c.-146T= | ENSP00000437737.1:n.-146T= | |
| ENST00000543956.4:c.160+622T= | ENSP00000441861.1:n.160+622T= | |
| NM_000621.4:c.-146T= | NP_000612.1:n.-146T= | |
| NM_001165947.2:c.160+622T= | NP_001159419.1:n.160+622T= | |
| NM_000621.5:c.-146T= MANE Select | NP_000612.1:n.-146T= | |
| NM_001165947.5:c.-78+622T= | NP_001159419.2:n.-78+622T= | |
| NM_001378924.1:c.-146T= | NP_001365853.1:n.-146T= |