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