Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24953704G= , CM000670.2:g.24953704G= | GRCh38 |
| NC_000008.10:g.24811218G= , CM000670.1:g.24811218G= | GRCh37 |
| NC_000008.9:g.24867135G= | NCBI36 |
| NG_008492.1:g.7914C= , LRG_259:g.7914C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.1261C= MANE Select | NP_006149.2:p.Arg421= |
| ENST00000610854.2:c.1261C= MANE Select | ENSP00000482169.2:p.Arg421= |
| NM_006158.4:c.1261C= , LRG_259t1:c.1261C= | NP_006149.2:p.Arg421= |
| ENST00000610854.1:c.1261C= | ENSP00000482169.1:p.Arg421= |
| ENST00000619417.1:c.*126C= | ENSP00000483690.1:n.*126C= |