Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625081T= , CM000673.2:g.22625081T= | GRCh38 |
| NC_000011.9:g.22646627T= , CM000673.1:g.22646627T= | GRCh37 |
| NC_000011.8:g.22603203T= | NCBI36 |
| NG_007425.1:g.5761A= , LRG_527:g.5761A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.730A= MANE Select | ENSP00000330875.3:p.Asn244= | |
| ENST00000327470.4:c.730A= | ENSP00000330875.3:p.Asn244= | |
| NM_022725.3:c.730A= , LRG_527t1:c.730A= | NP_073562.1:p.Asn244= | |
| NM_022725.4:c.730A= MANE Select | NP_073562.1:p.Asn244= |