Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492676G>T , CM000674.2:g.52492676G>T | GRCh38 |
| NC_000012.11:g.52886460G>T , CM000674.1:g.52886460G>T | GRCh37 |
| NC_000012.10:g.51172727G>T | NCBI36 |
| NG_008298.1:g.5722C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.513C>A MANE Select | ENSP00000369317.3:p.Asn171Lys | |
| ENST00000330722.6:c.513C>A | ENSP00000369317.3:p.Asn171Lys | |
| ENST00000549898.5:n.34C>A | ||
| NM_005554.3:c.513C>A | NP_005545.1:p.Asn171Lys | |
| NM_005554.4:c.513C>A MANE Select | NP_005545.1:p.Asn171Lys |