Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.24505226G>A , CM000685.2:g.24505226G>A | GRCh38 |
| NC_000023.10:g.24523343G>A , CM000685.1:g.24523343G>A | GRCh37 |
| NC_000023.9:g.24433264G>A | NCBI36 |
| NG_016762.1:g.45000G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005391.5:c.523G>A MANE Select | NP_005382.1:p.Asp175Asn |
| ENST00000379162.9:c.523G>A MANE Select | ENSP00000368460.4:p.Asp175Asn |
| NM_001142386.2:c.523G>A | NP_001135858.1:p.Asp175Asn |
| NM_001142386.3:c.523G>A | NP_001135858.1:p.Asp175Asn |
| NM_005391.4:c.523G>A | NP_005382.1:p.Asp175Asn |
| ENST00000379162.8:c.523G>A | ENSP00000368460.4:p.Asp175Asn |
| ENST00000441463.2:c.523G>A | ENSP00000387536.2:p.Asp175Asn |
| ENST00000568479.2:c.523G>A | ENSP00000498864.1:p.Asp175Asn |
| ENST00000648777.1:c.523G>A | ENSP00000497727.1:p.Asp175Asn |