Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74740803A>C , CM000685.2:g.74740803A>C | GRCh38 |
| NC_000023.10:g.73960638A>C , CM000685.1:g.73960638A>C | GRCh37 |
| NC_000023.9:g.73877363A>C | NCBI36 |
| NG_027726.1:g.189650T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000055682.12:c.3754T>G MANE Select | ENSP00000055682.5:p.Ser1252Ala | |
| ENST00000616200.2:c.3754T>G | ENSP00000480284.1:p.Ser1252Ala | |
| ENST00000642681.2:c.3754T>G | ENSP00000495800.1:p.Ser1252Ala | |
| ENST00000055682.10:c.3754T>G | ENSP00000055682.5:p.Ser1252Ala | |
| ENST00000616200.1:c.3754T>G | ENSP00000480284.1:p.Ser1252Ala | |
| NM_001008537.2:c.3754T>G | NP_001008537.1:p.Ser1252Ala | |
| XM_011530935.1:c.3754T>G | XP_011529237.1:p.Ser1252Ala | |
| NM_001008537.3:c.3754T>G MANE Select | NP_001008537.1:p.Ser1252Ala |