Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59835891G>A , CM000673.2:g.59835891G>A | GRCh38 |
| NC_000011.9:g.59603364G>A , CM000673.1:g.59603364G>A | GRCh37 |
| NC_000011.8:g.59359940G>A | NCBI36 |
| NG_008120.1:g.14611C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005142.3:c.990C>T MANE Select | NP_005133.2:p.Asn330= |
| ENST00000257248.3:c.990C>T MANE Select | ENSP00000257248.2:p.Asn330= |
| NM_005142.2:c.990C>T | NP_005133.2:p.Asn330= |
| ENST00000257248.2:c.990C>T | ENSP00000257248.2:p.Asn330= |
| ENST00000525058.5:c.*957C>T | ENSP00000433196.1:n.*957C>T |
| ENST00000533067.1:n.37C>T | |
| ENST00000533847.1:n.642C>T | |
| XM_011544939.1:c.948C>T | XP_011543241.1:p.Asn316= |
| XM_011544939.3:c.948C>T | XP_011543241.1:p.Asn316= |