Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1090879A>T , CM000673.2:g.1090879A>T | GRCh38 |
| NC_000011.9:g.1088815A>T , CM000673.1:g.1088815A>T | GRCh37 |
| NC_000011.8:g.1078815A>T | NCBI36 |
| NG_051929.1:g.19518A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002457.3:c.3600A>T | NP_002448.3:p.Ala1200= |
| NM_002457.4:c.3600A>T | NP_002448.4:p.Ala1200= |
| ENST00000361558.7:n.3627A>T | |
| ENST00000675028.1:c.3600A>T | ENSP00000502432.1:p.Ala1200= |