Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832941C>A , CM000673.2:g.116832941C>A | GRCh38 |
| NC_000011.9:g.116703657C>A , CM000673.1:g.116703657C>A | GRCh37 |
| NC_000011.8:g.116208867C>A | NCBI36 |
| NG_008949.1:g.8034C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.*57C>A MANE Select | ENSP00000227667.2:n.*57C>A | |
| ENST00000227667.7:c.*57C>A | ENSP00000227667.2:n.*57C>A | |
| ENST00000375345.3:c.*57C>A | ENSP00000364494.1:n.*57C>A | |
| ENST00000630701.1:c.411C>A | ENSP00000486182.1:n.411C>A | |
| NM_000040.1:c.*57C>A | NP_000031.1:n.*57C>A | |
| NM_000040.2:c.*57C>A | NP_000031.1:n.*57C>A | |
| NM_000040.3:c.*57C>A MANE Select | NP_000031.1:n.*57C>A |