Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73343574G>T , CM000677.2:g.73343574G>T | GRCh38 |
| NC_000015.9:g.73635915G>T , CM000677.1:g.73635915G>T | GRCh37 |
| NC_000015.8:g.71422968G>T | NCBI36 |
| NG_009063.1:g.30691C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005477.3:c.1020C>A MANE Select | NP_005468.1:p.Ser340Arg |
| ENST00000261917.4:c.1020C>A MANE Select | ENSP00000261917.3:p.Ser340Arg |
| NM_005477.2:c.1020C>A | NP_005468.1:p.Ser340Arg |
| ENST00000261917.3:c.1020C>A | ENSP00000261917.3:p.Ser340Arg |