Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601857A>C , CM000672.2:g.110601857A>C | GRCh38 |
| NC_000010.10:g.112361615A>C , CM000672.1:g.112361615A>C | GRCh37 |
| NC_000010.9:g.112351605A>C | NCBI36 |
| NG_012217.1:g.39167A>C , LRG_774:g.39167A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.2865A>C MANE Select | NP_005436.1:p.Glu955Asp |
| ENST00000361804.5:c.2865A>C MANE Select | ENSP00000354720.5:p.Glu955Asp |
| NM_005445.3:c.2865A>C , LRG_774t1:c.2865A>C | NP_005436.1:p.Glu955Asp |
| ENST00000361804.4:c.2865A>C | ENSP00000354720.4:p.Glu955Asp |
| ENST00000684988.1:n.5098A>C | |
| ENST00000685743.1:n.2573A>C | |
| ENST00000686057.1:n.1216A>C | |
| ENST00000689321.1:n.1828A>C | |
| ENST00000689986.1:n.654A>C |