Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940601A>T , CM000678.2:g.67940601A>T | GRCh38 |
| NC_000016.9:g.67974504A>T , CM000678.1:g.67974504A>T | GRCh37 |
| NC_000016.8:g.66532005A>T | NCBI36 |
| NG_009778.1:g.8512T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.749-123T>A MANE Select | ENSP00000264005.5:n.749-123T>A | |
| ENST00000264005.9:c.749-123T>A | ENSP00000264005.5:n.749-123T>A | |
| ENST00000570369.5:c.156-527T>A | ||
| ENST00000570980.1:c.533-123T>A | ENSP00000464651.1:n.533-123T>A | |
| ENST00000573538.5:c.487-123T>A | ENSP00000463220.1:n.487-123T>A | |
| NM_000229.1:c.749-123T>A | NP_000220.1:n.749-123T>A | |
| NM_000229.2:c.749-123T>A MANE Select | NP_000220.1:n.749-123T>A |