Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625438C>T , CM000673.2:g.22625438C>T | GRCh38 |
| NC_000011.9:g.22646984C>T , CM000673.1:g.22646984C>T | GRCh37 |
| NC_000011.8:g.22603560C>T | NCBI36 |
| NG_007425.1:g.5404G>A , LRG_527:g.5404G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022725.4:c.373G>A MANE Select | NP_073562.1:p.Asp125Asn |
| ENST00000327470.6:c.373G>A MANE Select | ENSP00000330875.3:p.Asp125Asn |
| NM_022725.3:c.373G>A , LRG_527t1:c.373G>A | NP_073562.1:p.Asp125Asn |
| ENST00000327470.4:c.373G>A | ENSP00000330875.3:p.Asp125Asn |