Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83076927C>G , CM000667.2:g.83076927C>G | GRCh38 |
| NC_000005.9:g.82372746C>G , CM000667.1:g.82372746C>G | GRCh37 |
| NC_000005.8:g.82408502C>G | NCBI36 |
| NG_047086.1:g.4519C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174909.5:c.3+394G>C MANE Select | NP_777569.1:n.3+394G>C |
| ENST00000502346.2:c.3+394G>C MANE Select | ENSP00000424707.1:n.3+394G>C |
| NM_174909.4:c.3+394G>C | NP_777569.1:n.3+394G>C |
| ENST00000502346.1:c.3+394G>C | ENSP00000424707.1:n.3+394G>C |
| ENST00000503892.1:n.146+791G>C | |
| ENST00000504622.5:n.133+394G>C | |
| ENST00000509770.1:n.104+394G>C | |
| ENST00000511450.5:n.47+394G>C |