Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621880C>A , CM000676.2:g.49621880C>A | GRCh38 |
| NC_000014.8:g.50088598C>A , CM000676.1:g.50088598C>A | GRCh37 |
| NC_000014.7:g.49158348C>A | NCBI36 |
| NG_008920.1:g.6110C>A | |
| NG_033054.1:g.3752G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305386.4:c.612C>A MANE Select | ENSP00000307423.2:p.Ala204= | |
| ENST00000305386.3:c.612C>A | ENSP00000307423.2:p.Ala204= | |
| NM_002408.3:c.612C>A | NP_002399.1:p.Ala204= | |
| NM_002408.4:c.612C>A MANE Select | NP_002399.1:p.Ala204= |