Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130164374C>G , CM000674.2:g.130164374C>G | GRCh38 |
| NC_000012.11:g.130648919C>G , CM000674.1:g.130648919C>G | GRCh37 |
| NC_000012.10:g.129214872C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007197.4:c.1432C>G MANE Select | NP_009128.1:p.Gln478Glu |
| ENST00000229030.5:c.1432C>G MANE Select | ENSP00000229030.4:p.Gln478Glu |
| NM_007197.3:c.1432C>G | NP_009128.1:p.Gln478Glu |
| ENST00000229030.4:c.1432C>G | ENSP00000229030.4:p.Gln478Glu |
| ENST00000539839.1:c.1334C>G | ENSP00000438460.1:p.Ala445Gly |