Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601864C>G , CM000672.2:g.110601864C>G | GRCh38 |
| NC_000010.10:g.112361622C>G , CM000672.1:g.112361622C>G | GRCh37 |
| NC_000010.9:g.112351612C>G | NCBI36 |
| NG_012217.1:g.39174C>G , LRG_774:g.39174C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.2872C>G MANE Select | NP_005436.1:p.Gln958Glu |
| ENST00000361804.5:c.2872C>G MANE Select | ENSP00000354720.5:p.Gln958Glu |
| NM_005445.3:c.2872C>G , LRG_774t1:c.2872C>G | NP_005436.1:p.Gln958Glu |
| ENST00000361804.4:c.2872C>G | ENSP00000354720.4:p.Gln958Glu |
| ENST00000684988.1:n.5105C>G | |
| ENST00000685743.1:n.2580C>G | |
| ENST00000686057.1:n.1223C>G | |
| ENST00000689321.1:n.1835C>G | |
| ENST00000689986.1:n.661C>G |