Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601864C= , CM000672.2:g.110601864C= | GRCh38 |
| NC_000010.10:g.112361622C= , CM000672.1:g.112361622C= | GRCh37 |
| NC_000010.9:g.112351612C= | NCBI36 |
| NG_012217.1:g.39174C= , LRG_774:g.39174C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.2872C= MANE Select | NP_005436.1:p.Gln958= |
| ENST00000361804.5:c.2872C= MANE Select | ENSP00000354720.5:p.Gln958= |
| NM_005445.3:c.2872C= , LRG_774t1:c.2872C= | NP_005436.1:p.Gln958= |
| ENST00000361804.4:c.2872C= | ENSP00000354720.4:p.Gln958= |
| ENST00000684988.1:n.5105C= | |
| ENST00000685743.1:n.2580C= | |
| ENST00000686057.1:n.1223C= | |
| ENST00000689321.1:n.1835C= | |
| ENST00000689986.1:n.661C= |