Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74304579G>A , CM000685.2:g.74304579G>A | GRCh38 |
| NC_000023.10:g.73524414G>A , CM000685.1:g.73524414G>A | GRCh37 |
| NC_000023.9:g.73441139G>A | NCBI36 |
| NG_021228.1:g.5390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339534.4:c.313G>A MANE Select | ENSP00000345633.2:p.Asp105Asn | |
| ENST00000339534.3:c.313G>A | ENSP00000345633.2:p.Asp105Asn | |
| NM_203303.2:c.313G>A | NP_976048.1:p.Asp105Asn | |
| NM_203303.3:c.313G>A MANE Select | NP_976048.1:p.Asp105Asn |