Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73343576T>G , CM000677.2:g.73343576T>G | GRCh38 |
| NC_000015.9:g.73635917T>G , CM000677.1:g.73635917T>G | GRCh37 |
| NC_000015.8:g.71422970T>G | NCBI36 |
| NG_009063.1:g.30689A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005477.3:c.1018A>C MANE Select | NP_005468.1:p.Ser340Arg |
| ENST00000261917.4:c.1018A>C MANE Select | ENSP00000261917.3:p.Ser340Arg |
| NM_005477.2:c.1018A>C | NP_005468.1:p.Ser340Arg |
| ENST00000261917.3:c.1018A>C | ENSP00000261917.3:p.Ser340Arg |