Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88746706G= , CM000678.2:g.88746706G= | GRCh38 |
| NC_000016.9:g.88813114G= , CM000678.1:g.88813114G= | GRCh37 |
| NC_000016.8:g.87340615G= | NCBI36 |
| NG_042229.1:g.43515C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.160+2678C= MANE Select | NP_001136336.2:n.160+2678C= |
| ENST00000301015.14:c.160+2678C= MANE Select | ENSP00000301015.9:n.160+2678C= |
| NM_001142864.2:c.160+2678C= | NP_001136336.2:n.160+2678C= |
| NM_001142864.3:c.160+2678C= | NP_001136336.2:n.160+2678C= |
| ENST00000301015.13:c.160+2678C= | ENSP00000301015.9:n.160+2678C= |