Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268853G>A , CM000680.2:g.77268853G>A | GRCh38 |
| NC_000018.9:g.74980809G>A , CM000680.1:g.74980809G>A | GRCh37 |
| NC_000018.8:g.73109797G>A | NCBI36 |
| NG_009223.1:g.23802G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001480.4:c.1001G>A MANE Select | NP_001471.2:p.Ser334Asn |
| ENST00000299727.5:c.1001G>A MANE Select | ENSP00000299727.3:p.Ser334Asn |
| NM_001480.3:c.1001G>A | NP_001471.2:p.Ser334Asn |
| ENST00000299727.4:c.1001G>A | ENSP00000299727.3:p.Ser334Asn |