Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420225C>A , CM000676.2:g.23420225C>A | GRCh38 |
| NC_000014.8:g.23889434C>A , CM000676.1:g.23889434C>A | GRCh37 |
| NC_000014.7:g.22959274C>A | NCBI36 |
| NG_007884.1:g.20437G>T , LRG_384:g.20437G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.3346G>T MANE Select | NP_000248.2:p.Glu1116Ter |
| ENST00000355349.4:c.3346G>T MANE Select | ENSP00000347507.3:p.Glu1116Ter |
| NM_000257.3:c.3346G>T | NP_000248.2:p.Glu1116Ter |
| ENST00000355349.3:c.3346G>T | ENSP00000347507.3:p.Glu1116Ter |
| XM_017021340.1:c.3346G>T | XP_016876829.1:p.Glu1116Ter |
| XR_245686.3:n.3454G>T |