Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601822C= , CM000672.2:g.110601822C= | GRCh38 |
| NC_000010.10:g.112361580C= , CM000672.1:g.112361580C= | GRCh37 |
| NC_000010.9:g.112351570C= | NCBI36 |
| NG_012217.1:g.39132C= , LRG_774:g.39132C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5063C= | ||
| ENST00000685743.1:n.2538C= | ||
| ENST00000686057.1:n.1181C= | ||
| ENST00000689321.1:n.1793C= | ||
| ENST00000689986.1:n.619C= | ||
| ENST00000361804.5:c.2830C= MANE Select | ENSP00000354720.5:p.Arg944= | |
| ENST00000361804.4:c.2830C= | ENSP00000354720.4:p.Arg944= | |
| NM_005445.3:c.2830C= , LRG_774t1:c.2830C= | NP_005436.1:p.Arg944= | |
| NM_005445.4:c.2830C= MANE Select | NP_005436.1:p.Arg944= |