Linked Data
ClinVar Variation Id:
1214076
dbSNP Id:
rs115574138
ExAC:
8:134145863 C / T
gnomAD v2:
8-134145863-C-T
gnomAD v3:
8-133133619-C-T
gnomAD v4:
8-133133619-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133619C>T , CM000670.2:g.133133619C>T | GRCh38 |
| NC_000008.10:g.134145863C>T , CM000670.1:g.134145863C>T | GRCh37 |
| NC_000008.9:g.134215045C>T | NCBI36 |
| NG_015832.1:g.271659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8147C>T MANE Select | ENSP00000220616.4:p.Ser2716Phe | |
| ENST00000220616.8:c.8147C>T | ENSP00000220616.4:p.Ser2716Phe | |
| ENST00000519178.5:c.3513C>T | ||
| ENST00000519543.5:c.2546C>T | ENSP00000430430.1:p.Ser849Phe | |
| ENST00000521107.1:c.359C>T | ENSP00000430161.1:p.Ser120Phe | |
| ENST00000522691.1:n.233C>T | ||
| ENST00000523756.5:c.4802C>T | ||
| NM_003235.4:c.8147C>T | NP_003226.4:p.Ser2716Phe | |
| XM_005251038.3:c.7955C>T | XP_005251095.1:p.Ser2652Phe | |
| XM_006716622.2:c.8084C>T | XP_006716685.1:p.Ser2695Phe | |
| XM_005251038.4:c.7955C>T | XP_005251095.1:p.Ser2652Phe | |
| XM_006716622.3:c.8084C>T | XP_006716685.1:p.Ser2695Phe | |
| XM_017013793.1:c.8081C>T | XP_016869282.1:p.Ser2694Phe | |
| XM_017013794.1:c.8012C>T | XP_016869283.1:p.Ser2671Phe | |
| XM_017013795.1:c.7976C>T | XP_016869284.1:p.Ser2659Phe | |
| XM_017013796.1:c.7928C>T | XP_016869285.1:p.Ser2643Phe | |
| XM_017013797.1:c.7886C>T | XP_016869286.1:p.Ser2629Phe | |
| NM_003235.5:c.8147C>T MANE Select | NP_003226.4:p.Ser2716Phe |