Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120469173C= , CM000685.2:g.120469173C= | GRCh38 |
| NC_000023.10:g.119603028C= , CM000685.1:g.119603028C= | GRCh37 |
| NC_000023.9:g.119487056C= | NCBI36 |
| NG_007995.1:g.5177G= , LRG_749:g.5177G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706600.1:c.-4G= | ENSP00000516464.1:n.-4G= | |
| ENST00000200639.9:c.-4G= MANE Select | ENSP00000200639.4:n.-4G= | |
| ENST00000200639.8:c.-4G= | ENSP00000200639.4:n.-4G= | |
| ENST00000371335.4:c.-4G= | ENSP00000360386.4:n.-4G= | |
| ENST00000434600.6:c.-4G= | ENSP00000408411.2:n.-4G= | |
| NM_001122606.1:c.-4G= , LRG_749t3:c.-4G= | NP_001116078.1:n.-4G= | |
| NM_002294.2:c.-4G= , LRG_749t1:c.-4G= | NP_002285.1:n.-4G= | |
| NM_013995.2:c.-4G= , LRG_749t2:c.-4G= | NP_054701.1:n.-4G= | |
| NM_002294.3:c.-4G= MANE Select | NP_002285.1:n.-4G= |