Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15893561A= , CM000681.2:g.15893561A= | GRCh38 |
| NC_000019.9:g.16004371A= , CM000681.1:g.16004371A= | GRCh37 |
| NC_000019.8:g.15865371A= | NCBI36 |
| NG_007971.2:g.9514T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001082.5:c.344-979T= MANE Select | NP_001073.3:n.344-979T= |
| ENST00000221700.11:c.344-979T= MANE Select | ENSP00000221700.3:n.344-979T= |
| NM_001082.4:c.344-979T= | NP_001073.3:n.344-979T= |
| ENST00000011989.11:c.343+176T= | ENSP00000011989.8:n.343+176T= |
| ENST00000221700.10:c.344-979T= | ENSP00000221700.3:n.344-979T= |
| ENST00000392846.7:n.195-979T= | |
| ENST00000586927.2:c.344-979T= | ENSP00000465514.1:n.344-979T= |
| ENST00000587671.2:c.199-979T= | ENSP00000467443.2:n.199-979T= |
| ENST00000608168.1:n.397-979T= |