Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578628G>C , CM000672.2:g.110578628G>C | GRCh38 |
| NC_000010.10:g.112338386G>C , CM000672.1:g.112338386G>C | GRCh37 |
| NC_000010.9:g.112328376G>C | NCBI36 |
| NG_012217.1:g.15938G>C , LRG_774:g.15938G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.484G>C | ||
| ENST00000687823.1:n.265G>C | ||
| ENST00000689932.1:n.2414G>C | ||
| ENST00000691297.1:n.484G>C | ||
| ENST00000691527.1:n.1154G>C | ||
| ENST00000692792.1:n.470G>C | ||
| ENST00000361804.5:c.351G>C MANE Select | ENSP00000354720.5:p.Thr117= | |
| ENST00000361804.4:c.351G>C | ENSP00000354720.4:p.Thr117= | |
| ENST00000462899.1:n.497G>C | ||
| NM_005445.3:c.351G>C , LRG_774t1:c.351G>C | NP_005436.1:p.Thr117= | |
| NM_005445.4:c.351G>C MANE Select | NP_005436.1:p.Thr117= |