Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312195C= , CM000676.2:g.21312195C= | GRCh38 |
| NC_000014.8:g.21780354C= , CM000676.1:g.21780354C= | GRCh37 |
| NC_000014.7:g.20850194C= | NCBI36 |
| NG_008933.1:g.29219C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1077+225C= MANE Select | ENSP00000382895.2:n.1077+225C= | |
| ENST00000400017.6:c.1077+225C= | ENSP00000382895.2:n.1077+225C= | |
| ENST00000556336.5:c.996+225C= | ENSP00000450445.1:n.996+225C= | |
| ENST00000557771.5:c.996+225C= | ENSP00000451219.1:n.996+225C= | |
| NM_020366.3:c.1077+225C= | NP_065099.3:n.1077+225C= | |
| XM_011536983.1:c.1044+225C= | XP_011535285.1:n.1044+225C= | |
| NM_020366.4:c.1077+225C= MANE Select | NP_065099.3:n.1077+225C= |