Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451568T>C , CM000674.2:g.52451568T>C | GRCh38 |
| NC_000012.11:g.52845352T>C , CM000674.1:g.52845352T>C | GRCh37 |
| NC_000012.10:g.51131619T>C | NCBI36 |
| NG_008299.1:g.5559A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.511A>G MANE Select | ENSP00000252252.3:p.Asn171Asp | |
| ENST00000252252.3:c.511A>G | ENSP00000252252.3:p.Asn171Asp | |
| NM_005555.3:c.511A>G | NP_005546.2:p.Asn171Asp | |
| NM_005555.4:c.511A>G MANE Select | NP_005546.2:p.Asn171Asp |