Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.58353113T>C , CM000681.2:g.58353113T>C | GRCh38 |
| NC_000019.9:g.58864479T>C , CM000681.1:g.58864479T>C | GRCh37 |
| NC_000019.8:g.63556291T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130786.4:c.155A>G (A1BG) MANE Select | NP_570602.2:p.His52Arg |
| ENST00000263100.8:c.155A>G (A1BG) MANE Select | ENSP00000263100.2:p.His52Arg |
| NM_130786.3:c.155A>G (A1BG) | NP_570602.2:p.His52Arg |
| NR_015380.2:n.1075+69T>C (A1BG-AS1) | |
| ENST00000263100.7:c.155A>G (A1BG) | ENSP00000263100.2:p.His52Arg |
| ENST00000595014.1:n.209A>G (A1BG) | |
| ENST00000600966.1:c.17A>G (A1BG) | ENSP00000470909.1:p.His6Arg |