Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259836C>A , CM000676.2:g.74259836C>A | GRCh38 |
| NC_000014.8:g.74726539C>A , CM000676.1:g.74726539C>A | GRCh37 |
| NC_000014.7:g.73796292C>A | NCBI36 |
| NG_013092.1:g.25365C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261980.3:c.760+54C>A MANE Select | ENSP00000261980.2:n.760+54C>A | |
| ENST00000261980.2:c.760+54C>A | ENSP00000261980.2:n.760+54C>A | |
| NM_182894.2:c.760+54C>A | NP_878314.1:n.760+54C>A | |
| XM_011536719.1:c.760+54C>A | XP_011535021.1:n.760+54C>A | |
| NM_182894.3:c.760+54C>A MANE Select | NP_878314.1:n.760+54C>A |