Linked Data
ClinVar Variation Id:
372218
ClinVar RCV Id:
RCV000412560
dbSNP Id:
rs1057517676
PubMed:
PMID:25701870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74674964A>G , CM000677.2:g.74674964A>G | GRCh38 |
| NC_000015.9:g.74967305A>G , CM000677.1:g.74967305A>G | GRCh37 |
| NC_000015.8:g.72754358A>G | NCBI36 |
| NG_054910.1:g.26082T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315127.9:c.161T>C MANE Select | ENSP00000320503.4:p.Phe54Ser | |
| ENST00000647659.1:c.161T>C | ENSP00000497737.1:p.Phe54Ser | |
| ENST00000315127.8:c.161T>C | ENSP00000320503.4:p.Phe54Ser | |
| ENST00000426797.7:c.161T>C | ENSP00000401343.3:p.Phe54Ser | |
| ENST00000563009.5:c.161T>C | ENSP00000455503.1:p.Phe54Ser | |
| ENST00000563292.1:c.161T>C | ENSP00000454317.1:p.Phe54Ser | |
| ENST00000565602.5:c.161T>C | ENSP00000454885.1:p.Phe54Ser | |
| ENST00000566219.1:c.-65-18896T>C | ENSP00000456805.1:n.-65-18896T>C | |
| ENST00000566243.5:c.161T>C | ENSP00000457523.1:p.Phe54Ser | |
| ENST00000566828.5:c.161T>C | ENSP00000455870.1:p.Phe54Ser | |
| ENST00000567813.1:c.161T>C | ENSP00000457156.1:p.Phe54Ser | |
| ENST00000568176.5:c.161T>C | ENSP00000455580.1:p.Phe54Ser | |
| ENST00000569007.1:n.276T>C | ||
| ENST00000569561.5:c.161T>C | ENSP00000455589.1:p.Phe54Ser | |
| ENST00000570138.5:c.161T>C | ENSP00000457170.1:p.Phe54Ser | |
| NM_001142443.1:c.161T>C | NP_001135915.1:p.Phe54Ser | |
| NM_001142444.1:c.161T>C | NP_001135916.1:p.Phe54Ser | |
| NM_025083.3:c.161T>C | NP_079359.2:p.Phe54Ser | |
| XM_011522091.1:c.161T>C | XP_011520393.1:p.Phe54Ser | |
| NM_001142443.2:c.161T>C | NP_001135915.1:p.Phe54Ser | |
| NM_001142444.2:c.161T>C | NP_001135916.1:p.Phe54Ser | |
| NM_001351378.1:c.161T>C | NP_001338307.1:p.Phe54Ser | |
| NM_001351379.1:c.-270T>C | NP_001338308.1:n.-270T>C | |
| NM_025083.4:c.161T>C | NP_079359.2:p.Phe54Ser | |
| XM_024450077.1:c.161T>C | XP_024305845.1:p.Phe54Ser | |
| XM_024450078.1:c.161T>C | XP_024305846.1:p.Phe54Ser | |
| XM_024450079.1:c.161T>C | XP_024305847.1:p.Phe54Ser | |
| NM_025083.5:c.161T>C MANE Select | NP_079359.2:p.Phe54Ser | |
| NM_001142443.3:c.161T>C | NP_001135915.1:p.Phe54Ser | |
| NM_001142444.3:c.161T>C | NP_001135916.1:p.Phe54Ser | |
| NM_001351378.2:c.161T>C | NP_001338307.1:p.Phe54Ser | |
| NM_001351379.2:c.-270T>C | NP_001338308.1:n.-270T>C |