Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278453C= , CM000678.2:g.2278453C= | GRCh38 |
| NC_000016.9:g.2328454C= , CM000678.1:g.2328454C= | GRCh37 |
| NC_000016.8:g.2268455C= | NCBI36 |
| NG_011790.1:g.67294G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4553G= MANE Select | ENSP00000301732.5:p.Gly1518= | |
| ENST00000301732.9:c.4553G= | ENSP00000301732.5:p.Gly1518= | |
| ENST00000382381.7:c.4379G= | ENSP00000371818.3:p.Gly1460= | |
| ENST00000566200.1:n.1074G= | ||
| NM_001089.2:c.4553G= | NP_001080.2:p.Gly1518= | |
| NM_001089.3:c.4553G= MANE Select | NP_001080.2:p.Gly1518= |