Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130388027C>A , CM000669.2:g.130388027C>A | GRCh38 |
| NC_000007.13:g.130027868C>A , CM000669.1:g.130027868C>A | GRCh37 |
| NC_000007.12:g.129815104C>A | NCBI36 |
| NG_042276.1:g.12657C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000011292.8:c.*16C>A MANE Select | ENSP00000011292.3:n.*16C>A | |
| ENST00000011292.7:c.*16C>A | ENSP00000011292.3:n.*16C>A | |
| ENST00000479106.1:n.1851C>A | ||
| ENST00000484324.1:c.*16C>A | ENSP00000419497.1:n.*16C>A | |
| NM_001868.3:c.*16C>A | NP_001859.1:n.*16C>A | |
| NM_001868.4:c.*16C>A MANE Select | NP_001859.1:n.*16C>A |