Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589932G>C , CM000672.2:g.110589932G>C | GRCh38 |
| NC_000010.10:g.112349690G>C , CM000672.1:g.112349690G>C | GRCh37 |
| NC_000010.9:g.112339680G>C | NCBI36 |
| NG_012217.1:g.27242G>C , LRG_774:g.27242G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1350G>C | ||
| ENST00000684988.1:n.2095G>C | ||
| ENST00000687823.1:n.1364G>C | ||
| ENST00000689932.1:n.3513G>C | ||
| ENST00000691297.1:n.1583G>C | ||
| ENST00000691527.1:n.2253G>C | ||
| ENST00000692792.1:n.1569G>C | ||
| ENST00000361804.5:c.1450G>C MANE Select | ENSP00000354720.5:p.Ala484Pro | |
| ENST00000361804.4:c.1450G>C | ENSP00000354720.4:p.Ala484Pro | |
| NM_005445.3:c.1450G>C , LRG_774t1:c.1450G>C | NP_005436.1:p.Ala484Pro | |
| NM_005445.4:c.1450G>C MANE Select | NP_005436.1:p.Ala484Pro |