Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110584334G>A , CM000672.2:g.110584334G>A | GRCh38 |
| NC_000010.10:g.112344092G>A , CM000672.1:g.112344092G>A | GRCh37 |
| NC_000010.9:g.112334082G>A | NCBI36 |
| NG_012217.1:g.21644G>A , LRG_774:g.21644G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.1888G>A | ||
| ENST00000687823.1:n.1157G>A | ||
| ENST00000689932.1:n.3306G>A | ||
| ENST00000691297.1:n.1376G>A | ||
| ENST00000691527.1:n.2046G>A | ||
| ENST00000692792.1:n.1362G>A | ||
| ENST00000361804.5:c.1243G>A MANE Select | ENSP00000354720.5:p.Ala415Thr | |
| ENST00000361804.4:c.1243G>A | ENSP00000354720.4:p.Ala415Thr | |
| NM_005445.3:c.1243G>A , LRG_774t1:c.1243G>A | NP_005436.1:p.Ala415Thr | |
| NM_005445.4:c.1243G>A MANE Select | NP_005436.1:p.Ala415Thr |