Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31393799C>T , CM000676.2:g.31393799C>T | GRCh38 |
| NC_000014.8:g.31863005C>T , CM000676.1:g.31863005C>T | GRCh37 |
| NC_000014.7:g.30932756C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543095.7:c.772+253G>A MANE Select | ENSP00000437968.2:n.772+253G>A | |
| ENST00000543095.6:c.772+253G>A | ENSP00000437968.2:n.772+253G>A | |
| ENST00000549185.5:c.*868+253G>A | ENSP00000446654.1:n.*868+253G>A | |
| NM_015473.3:c.772+253G>A | NP_056288.2:n.772+253G>A | |
| NM_015473.4:c.772+253G>A MANE Select | NP_056288.2:n.772+253G>A |