Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830844G= , CM000673.2:g.116830844G= | GRCh38 |
| NC_000011.9:g.116701560G= , CM000673.1:g.116701560G= | GRCh37 |
| NC_000011.8:g.116206770G= | NCBI36 |
| NG_008949.1:g.5937G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000040.3:c.127G= MANE Select | NP_000031.1:p.Ala43= |
| ENST00000227667.8:c.127G= MANE Select | ENSP00000227667.2:p.Ala43= |
| NM_000040.1:c.127G= | NP_000031.1:p.Ala43= |
| NM_000040.2:c.127G= | NP_000031.1:p.Ala43= |
| ENST00000227667.7:c.127G= | ENSP00000227667.2:p.Ala43= |
| ENST00000375345.3:c.181G= | ENSP00000364494.1:p.Ala61= |
| ENST00000433777.5:c.127G= | ENSP00000410614.1:p.Ala43= |
| ENST00000470144.1:n.159G= | |
| ENST00000630701.1:c.181G= | ENSP00000486182.1:p.Ala61= |