Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67935701C>A , CM000678.2:g.67935701C>A | GRCh38 |
| NC_000016.9:g.67969604C>A , CM000678.1:g.67969604C>A | GRCh37 |
| NC_000016.8:g.66527105C>A | NCBI36 |
| NG_051639.1:g.1175G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358514.9:c.384-4G>T MANE Select | ENSP00000351314.4:n.384-4G>T | |
| ENST00000358514.8:c.384-4G>T | ENSP00000351314.4:n.384-4G>T | |
| ENST00000570304.1:n.482-4G>T | ||
| ENST00000570985.1:n.95G>T | ||
| ENST00000574576.2:c.24-4G>T | ENSP00000463811.1:n.24-4G>T | |
| ENST00000575231.1:n.56-4G>T | ||
| ENST00000575556.1:n.818-4G>T | ||
| NM_002801.3:c.384-4G>T | NP_002792.1:n.384-4G>T | |
| NM_002801.4:c.384-4G>T MANE Select | NP_002792.1:n.384-4G>T |