Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69810475C>T , CM000673.2:g.69810475C>T | GRCh38 |
| NC_000011.9:g.69625243C>T , CM000673.1:g.69625243C>T | GRCh37 |
| NC_000011.8:g.69334424C>T | NCBI36 |
| NG_009016.1:g.13950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334134.4:c.550G>A MANE Select | ENSP00000334122.2:p.Asp184Asn | |
| ENST00000646078.1:n.397G>A | ||
| ENST00000334134.2:c.550G>A | ENSP00000334122.2:p.Asp184Asn | |
| NM_005247.2:c.550G>A | NP_005238.1:p.Asp184Asn | |
| NM_005247.3:c.550G>A | NP_005238.1:p.Asp184Asn | |
| NM_005247.4:c.550G>A MANE Select | NP_005238.1:p.Asp184Asn |