Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601871T>A , CM000672.2:g.110601871T>A | GRCh38 |
| NC_000010.10:g.112361629T>A , CM000672.1:g.112361629T>A | GRCh37 |
| NC_000010.9:g.112351619T>A | NCBI36 |
| NG_012217.1:g.39181T>A , LRG_774:g.39181T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.2879T>A MANE Select | NP_005436.1:p.Leu960Gln |
| ENST00000361804.5:c.2879T>A MANE Select | ENSP00000354720.5:p.Leu960Gln |
| NM_005445.3:c.2879T>A , LRG_774t1:c.2879T>A | NP_005436.1:p.Leu960Gln |
| ENST00000361804.4:c.2879T>A | ENSP00000354720.4:p.Leu960Gln |
| ENST00000684988.1:n.5112T>A | |
| ENST00000685743.1:n.2587T>A | |
| ENST00000686057.1:n.1230T>A | |
| ENST00000689321.1:n.1842T>A | |
| ENST00000689986.1:n.668T>A |