Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933239T>G , CM000679.2:g.4933239T>G | GRCh38 |
| NC_000017.10:g.4836534T>G , CM000679.1:g.4836534T>G | GRCh37 |
| NC_000017.9:g.4777314T>G | NCBI36 |
| NG_008767.2:g.5945T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.635T>G (GP1BA) MANE Select | ENSP00000329380.5:p.Leu212Arg | |
| ENST00000649830.1:c.-888+1103A>C (CHRNE) | ENSP00000496907.1:n.-888+1103A>C | |
| ENST00000329125.5:c.635T>G (GP1BA) | ENSP00000329380.5:p.Leu212Arg | |
| ENST00000611961.1:c.635T>G (GP1BA) | ENSP00000484439.1:p.Leu212Arg | |
| NM_000173.6:c.635T>G (GP1BA) | NP_000164.5:p.Leu212Arg | |
| NM_000173.7:c.635T>G (GP1BA) MANE Select | NP_000164.5:p.Leu212Arg |