Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57173856G>C , CM000674.2:g.57173856G>C | GRCh38 |
| NC_000012.11:g.57567639G>C , CM000674.1:g.57567639G>C | GRCh37 |
| NC_000012.10:g.55853906G>C | NCBI36 |
| NG_016444.1:g.50358G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002332.3:c.3423G>C MANE Select | NP_002323.2:p.Glu1141Asp |
| ENST00000243077.8:c.3423G>C MANE Select | ENSP00000243077.3:p.Glu1141Asp |
| NM_002332.2:c.3423G>C | NP_002323.2:p.Glu1141Asp |
| ENST00000243077.7:c.3423G>C | ENSP00000243077.3:p.Glu1141Asp |
| XM_017019303.1:c.3474G>C | XP_016874792.1:p.Glu1158Asp |