Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933551C>A , CM000679.2:g.4933551C>A | GRCh38 |
| NC_000017.10:g.4836846C>A , CM000679.1:g.4836846C>A | GRCh37 |
| NC_000017.9:g.4777626C>A | NCBI36 |
| NG_008767.2:g.6257C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.947C>A (GP1BA) MANE Select | ENSP00000329380.5:p.Thr316Asn | |
| ENST00000649830.1:c.-888+791G>T (CHRNE) | ENSP00000496907.1:n.-888+791G>T | |
| ENST00000329125.5:c.947C>A (GP1BA) | ENSP00000329380.5:p.Thr316Asn | |
| ENST00000611961.1:c.947C>A (GP1BA) | ENSP00000484439.1:p.Thr316Asn | |
| NM_000173.6:c.947C>A (GP1BA) | NP_000164.5:p.Thr316Asn | |
| NM_000173.7:c.947C>A (GP1BA) MANE Select | NP_000164.5:p.Thr316Asn |