Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189003114T= , CM000664.2:g.189003114T= | GRCh38 |
| NC_000002.11:g.189867840T= , CM000664.1:g.189867840T= | GRCh37 |
| NC_000002.10:g.189576085T= | NCBI36 |
| NG_007404.1:g.33742T= , LRG_3:g.33742T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2454+52T= | ENSP00000415346.2:n.2454+52T= | |
| ENST00000304636.9:c.2553+52T= MANE Select | ENSP00000304408.4:n.2553+52T= | |
| ENST00000304636.7:c.2553+52T= | ENSP00000304408.3:n.2553+52T= | |
| ENST00000317840.9:c.2527+78T= | ENSP00000315243.6:n.2527+78T= | |
| NM_000090.3:c.2553+52T= , LRG_3t1:c.2553+52T= | NP_000081.1:n.2553+52T= | |
| NM_000090.4:c.2553+52T= MANE Select | NP_000081.2:n.2553+52T= |