Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.22391930T>A , CM000681.2:g.22391930T>A | GRCh38 |
| NC_000019.9:g.22574732T>A , CM000681.1:g.22574732T>A | GRCh37 |
| NC_000019.8:g.22366572T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001098626.2:c.1305A>T MANE Select | NP_001092096.1:p.Lys435Asn |
| ENST00000357774.9:c.1305A>T MANE Select | ENSP00000350418.4:p.Lys435Asn |
| NM_001098626.1:c.1305A>T | NP_001092096.1:p.Lys435Asn |
| XM_011527705.1:c.1182A>T | XP_011526007.1:p.Lys394Asn |
| XM_011527706.1:c.921A>T | XP_011526008.1:p.Lys307Asn |