Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8189711C>T , CM000679.2:g.8189711C>T | GRCh38 |
| NC_000017.10:g.8093029C>T , CM000679.1:g.8093029C>T | GRCh37 |
| NC_000017.9:g.8033754C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017622.3:c.430G>A MANE Select | NP_060092.2:p.Asp144Asn |
| ENST00000389017.6:c.430G>A MANE Select | ENSP00000373669.4:p.Asp144Asn |
| NM_017622.2:c.430G>A | NP_060092.2:p.Asp144Asn |
| ENST00000389017.5:c.430G>A | ENSP00000373669.4:p.Asp144Asn |