Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35679688A= , CM000673.2:g.35679688A= | GRCh38 |
| NC_000011.9:g.35701236A= , CM000673.1:g.35701236A= | GRCh37 |
| NC_000011.8:g.35657812A= | NCBI36 |
| NG_052784.1:g.21997A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017583.6:c.670-5571A= MANE Select | NP_060053.2:n.670-5571A= |
| ENST00000299413.7:c.670-5571A= MANE Select | ENSP00000299413.5:n.670-5571A= |
| NM_017583.5:c.670-5571A= | NP_060053.2:n.670-5571A= |
| ENST00000299413.6:c.670-5571A= | ENSP00000299413.5:n.670-5571A= |
| XM_006718254.1:c.670-5571A= | XP_006718317.1:n.670-5571A= |