Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189005335T= , CM000664.2:g.189005335T= | GRCh38 |
| NC_000002.11:g.189870061T= , CM000664.1:g.189870061T= | GRCh37 |
| NC_000002.10:g.189578306T= | NCBI36 |
| NG_007404.1:g.35963T= , LRG_3:g.35963T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2833-15T= | ENSP00000415346.2:n.2833-15T= | |
| ENST00000304636.9:c.2932-15T= MANE Select | ENSP00000304408.4:n.2932-15T= | |
| ENST00000304636.7:c.2932-15T= | ENSP00000304408.3:n.2932-15T= | |
| ENST00000317840.9:c.2527+2299T= | ENSP00000315243.6:n.2527+2299T= | |
| NM_000090.3:c.2932-15T= , LRG_3t1:c.2932-15T= | NP_000081.1:n.2932-15T= | |
| NM_000090.4:c.2932-15T= MANE Select | NP_000081.2:n.2932-15T= |