Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83076846G>A , CM000667.2:g.83076846G>A | GRCh38 |
| NC_000005.9:g.82372665G>A , CM000667.1:g.82372665G>A | GRCh37 |
| NC_000005.8:g.82408421G>A | NCBI36 |
| NG_047086.1:g.4438G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174909.5:c.3+475C>T MANE Select | NP_777569.1:n.3+475C>T |
| ENST00000502346.2:c.3+475C>T MANE Select | ENSP00000424707.1:n.3+475C>T |
| NM_174909.4:c.3+475C>T | NP_777569.1:n.3+475C>T |
| ENST00000502346.1:c.3+475C>T | ENSP00000424707.1:n.3+475C>T |
| ENST00000503892.1:n.146+872C>T | |
| ENST00000504622.5:n.133+475C>T | |
| ENST00000509770.1:n.104+475C>T | |
| ENST00000511450.5:n.47+475C>T |