Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322699T>G , CM000677.2:g.73322699T>G | GRCh38 |
| NC_000015.9:g.73615040T>G , CM000677.1:g.73615040T>G | GRCh37 |
| NC_000015.8:g.71402093T>G | NCBI36 |
| NG_009063.1:g.51566A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3394A>C MANE Select | ENSP00000261917.3:p.Ser1132Arg | |
| ENST00000261917.3:c.3394A>C | ENSP00000261917.3:p.Ser1132Arg | |
| NM_005477.2:c.3394A>C | NP_005468.1:p.Ser1132Arg | |
| XM_011521148.1:c.2176A>C | XP_011519450.1:p.Ser726Arg | |
| XM_011521148.2:c.2176A>C | XP_011519450.1:p.Ser726Arg | |
| NM_005477.3:c.3394A>C MANE Select | NP_005468.1:p.Ser1132Arg |