Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189007517T= , CM000664.2:g.189007517T= | GRCh38 |
| NC_000002.11:g.189872243T= , CM000664.1:g.189872243T= | GRCh37 |
| NC_000002.10:g.189580488T= | NCBI36 |
| NG_007404.1:g.38145T= , LRG_3:g.38145T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3174T= | ENSP00000415346.2:p.Arg1058= | |
| ENST00000304636.9:c.3273T= MANE Select | ENSP00000304408.4:p.Arg1091= | |
| ENST00000304636.7:c.3273T= | ENSP00000304408.3:p.Arg1091= | |
| ENST00000317840.9:c.2528-537T= | ENSP00000315243.6:n.2528-537T= | |
| NM_000090.3:c.3273T= , LRG_3t1:c.3273T= | NP_000081.1:p.Arg1091= | |
| NM_000090.4:c.3273T= MANE Select | NP_000081.2:p.Arg1091= |