Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108561789T>C , CM000668.2:g.108561789T>C | GRCh38 |
| NC_000006.11:g.108882992T>C , CM000668.1:g.108882992T>C | GRCh37 |
| NC_000006.10:g.108989685T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406360.2:c.581T>C MANE Select | ENSP00000385824.1:p.Phe194Ser | |
| ENST00000343882.10:c.581T>C | ENSP00000339527.6:p.Phe194Ser | |
| ENST00000406360.1:c.581T>C | ENSP00000385824.1:p.Phe194Ser | |
| NM_001455.3:c.581T>C | NP_001446.1:p.Phe194Ser | |
| NM_201559.2:c.581T>C | NP_963853.1:p.Phe194Ser | |
| XM_005266867.3:c.-104T>C | XP_005266924.1:n.-104T>C | |
| XM_005266867.4:c.-104T>C | XP_005266924.1:n.-104T>C | |
| NM_001455.4:c.581T>C MANE Select | NP_001446.1:p.Phe194Ser | |
| NM_201559.3:c.581T>C | NP_963853.1:p.Phe194Ser |