Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32222613T>G , CM000668.2:g.32222613T>G | GRCh38 |
| NC_000006.11:g.32190390T>G , CM000668.1:g.32190390T>G | GRCh37 |
| NC_000006.10:g.32298368T>G | NCBI36 |
| NG_028190.1:g.6455A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004557.4:c.349A>C MANE Select | NP_004548.3:p.Lys117Gln |
| ENST00000375023.3:c.349A>C MANE Select | ENSP00000364163.3:p.Lys117Gln |
| NM_004557.3:c.349A>C | NP_004548.3:p.Lys117Gln |
| NR_134949.1:n.488A>C | |
| NR_134949.2:n.488A>C | |
| NR_134950.1:n.488A>C | |
| NR_134950.2:n.488A>C | |
| ENST00000473562.1:n.478A>C |