Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10608631C>T , CM000670.2:g.10608631C>T | GRCh38 |
| NC_000008.10:g.10466141C>T , CM000670.1:g.10466141C>T | GRCh37 |
| NC_000008.9:g.10503551C>T | NCBI36 |
| NG_028035.1:g.51477G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178857.6:c.5467G>A MANE Select | NP_849188.4:p.Asp1823Asn |
| ENST00000382483.4:c.5467G>A MANE Select | ENSP00000371923.3:p.Asp1823Asn |
| NM_178857.5:c.5467G>A | NP_849188.4:p.Asp1823Asn |
| ENST00000382483.3:c.5467G>A | ENSP00000371923.3:p.Asp1823Asn |