Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32222629A>C , CM000668.2:g.32222629A>C | GRCh38 |
| NC_000006.11:g.32190406A>C , CM000668.1:g.32190406A>C | GRCh37 |
| NC_000006.10:g.32298384A>C | NCBI36 |
| NG_028190.1:g.6439T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004557.4:c.333T>G MANE Select | NP_004548.3:p.Gly111= |
| ENST00000375023.3:c.333T>G MANE Select | ENSP00000364163.3:p.Gly111= |
| NM_004557.3:c.333T>G | NP_004548.3:p.Gly111= |
| NR_134949.1:n.472T>G | |
| NR_134949.2:n.472T>G | |
| NR_134950.1:n.472T>G | |
| NR_134950.2:n.472T>G | |
| ENST00000473562.1:n.462T>G |