Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136063621C>A , CM000667.2:g.136063621C>A | GRCh38 |
| NC_000005.9:g.135399310C>A , CM000667.1:g.135399310C>A | GRCh37 |
| NC_000005.8:g.135427209C>A | NCBI36 |
| NG_012646.1:g.39727C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000358.3:c.*395C>A MANE Select | NP_000349.1:n.*395C>A |
| ENST00000442011.7:c.*395C>A MANE Select | ENSP00000416330.2:n.*395C>A |
| NM_000358.2:c.*395C>A | NP_000349.1:n.*395C>A |
| ENST00000442011.6:c.*395C>A | ENSP00000416330.2:n.*395C>A |
| ENST00000504411.1:n.851C>A | |
| ENST00000506699.5:n.2964C>A | |
| ENST00000507018.5:c.2425C>A | |
| ENST00000508076.5:c.*395C>A | ENSP00000423935.1:n.*395C>A |
| ENST00000514554.5:c.1494C>A |