Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57161082C>T , CM000674.2:g.57161082C>T | GRCh38 |
| NC_000012.11:g.57554865C>T , CM000674.1:g.57554865C>T | GRCh37 |
| NC_000012.10:g.55841132C>T | NCBI36 |
| NG_016444.1:g.37584C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002332.3:c.2169C>T MANE Select | NP_002323.2:p.Ile723= |
| ENST00000243077.8:c.2169C>T MANE Select | ENSP00000243077.3:p.Ile723= |
| NM_002332.2:c.2169C>T | NP_002323.2:p.Ile723= |
| ENST00000243077.7:c.2169C>T | ENSP00000243077.3:p.Ile723= |
| XM_017019303.1:c.2169C>T | XP_016874792.1:p.Ile723= |