Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177993121G>T , CM000667.2:g.177993121G>T | GRCh38 |
| NC_000005.9:g.177420122G>T , CM000667.1:g.177420122G>T | GRCh37 |
| NC_000005.8:g.177352728G>T | NCBI36 |
| NG_015889.1:g.8122C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.343-74C>A MANE Select | ENSP00000311290.2:n.343-74C>A | |
| NM_006261.4:c.343-74C>A | NP_006252.3:n.343-74C>A | |
| NM_006261.5:c.343-74C>A MANE Select | NP_006252.4:n.343-74C>A |