Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21737616C>A , CM000685.2:g.21737616C>A | GRCh38 |
| NC_000023.10:g.21755734C>A , CM000685.1:g.21755734C>A | GRCh37 |
| NC_000023.9:g.21665655C>A | NCBI36 |
| NG_031916.1:g.25545G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379494.4:c.214G>T MANE Select | ENSP00000368808.3:p.Glu72Ter | |
| ENST00000646008.1:c.214G>T | ENSP00000493671.1:p.Glu72Ter | |
| ENST00000379494.3:c.214G>T | ENSP00000368808.3:p.Glu72Ter | |
| ENST00000494525.1:n.307G>T | ||
| NM_014332.2:c.214G>T | NP_055147.1:p.Glu72Ter | |
| NR_045617.1:n.445G>T | ||
| NM_014332.3:c.214G>T MANE Select | NP_055147.1:p.Glu72Ter | |
| NR_045617.2:n.401G>T |