Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312417C= , CM000676.2:g.21312417C= | GRCh38 |
| NC_000014.8:g.21780576C= , CM000676.1:g.21780576C= | GRCh37 |
| NC_000014.7:g.20850416C= | NCBI36 |
| NG_008933.1:g.29441C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1078-16C= MANE Select | ENSP00000382895.2:n.1078-16C= | |
| ENST00000400017.6:c.1078-16C= | ENSP00000382895.2:n.1078-16C= | |
| ENST00000556336.5:c.997-16C= | ENSP00000450445.1:n.997-16C= | |
| ENST00000557771.5:c.997-16C= | ENSP00000451219.1:n.997-16C= | |
| NM_020366.3:c.1078-16C= | NP_065099.3:n.1078-16C= | |
| XM_011536983.1:c.1045-16C= | XP_011535285.1:n.1045-16C= | |
| NM_020366.4:c.1078-16C= MANE Select | NP_065099.3:n.1078-16C= |