Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159328122C= , CM000667.2:g.159328122C= | GRCh38 |
| NC_000005.9:g.158755130C= , CM000667.1:g.158755130C= | GRCh37 |
| NC_000005.8:g.158687708C= | NCBI36 |
| NG_009618.1:g.7352G= , LRG_71:g.7352G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-149+2310G= | ENSP00000512849.1:n.-149+2310G= | |
| ENST00000696751.1:c.1-1340G= | ENSP00000512850.1:n.1-1340G= | |
| ENST00000696752.1:n.433-1340G= | ||
| ENST00000231228.3:c.1-1340G= MANE Select | ENSP00000231228.2:n.1-1340G= | |
| ENST00000231228.2:c.1-1340G= | ENSP00000231228.2:n.1-1340G= | |
| NM_002187.2:c.1-1340G= , LRG_71t1:c.1-1340G= | NP_002178.2:n.1-1340G= | |
| NM_002187.3:c.1-1340G= MANE Select | NP_002178.2:n.1-1340G= |