Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942340G>T , CM000672.2:g.94942340G>T | GRCh38 |
| NC_000010.10:g.96702097G>T , CM000672.1:g.96702097G>T | GRCh37 |
| NC_000010.9:g.96692087G>T | NCBI36 |
| NG_008385.1:g.8683G>T | |
| NG_008385.2:g.9183G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.480G>T MANE Select | ENSP00000260682.6:p.Lys160Asn | |
| ENST00000643112.1:c.480G>T | ENSP00000496202.1:p.Lys160Asn | |
| ENST00000645207.1:n.633G>T | ||
| ENST00000260682.6:c.480G>T | ENSP00000260682.6:p.Lys160Asn | |
| ENST00000461906.1:n.505G>T | ||
| ENST00000473496.1:n.251G>T | ||
| NM_000771.3:c.480G>T | NP_000762.2:p.Lys160Asn | |
| NM_000771.4:c.480G>T MANE Select | NP_000762.2:p.Lys160Asn |