Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46408231C= , CM000663.2:g.46408231C= | GRCh38 |
| NC_000001.10:g.46873903C= , CM000663.1:g.46873903C= | GRCh37 |
| NC_000001.9:g.46646490C= | NCBI36 |
| NG_012195.1:g.18965C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243167.9:c.952-228C= MANE Select | ENSP00000243167.8:n.952-228C= | |
| ENST00000243167.8:c.952-228C= | ENSP00000243167.8:n.952-228C= | |
| ENST00000484697.5:c.73-228C= | ||
| ENST00000489366.2:n.167-228C= | ||
| ENST00000493735.5:n.1173-228C= | ||
| NM_001441.2:c.952-228C= | NP_001432.2:n.952-228C= | |
| NM_001441.3:c.952-228C= MANE Select | NP_001432.2:n.952-228C= |