Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59837211C>A , CM000673.2:g.59837211C>A | GRCh38 |
| NC_000011.9:g.59604684C>A , CM000673.1:g.59604684C>A | GRCh37 |
| NC_000011.8:g.59361260C>A | NCBI36 |
| NG_008120.1:g.13291G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257248.3:c.834G>T MANE Select | ENSP00000257248.2:p.Lys278Asn | |
| ENST00000257248.2:c.834G>T | ENSP00000257248.2:p.Lys278Asn | |
| ENST00000525058.5:c.*801G>T | ENSP00000433196.1:n.*801G>T | |
| ENST00000533847.1:n.486G>T | ||
| NM_005142.2:c.834G>T | NP_005133.2:p.Lys278Asn | |
| XM_011544939.1:c.829+5G>T | XP_011543241.1:n.829+5G>T | |
| XM_011544939.3:c.829+5G>T | XP_011543241.1:n.829+5G>T | |
| NM_005142.3:c.834G>T MANE Select | NP_005133.2:p.Lys278Asn |