Linked Data
ClinVar Variation Id:
55946
ClinVar RCV Id:
RCV000049355
dbSNP Id:
rs386833427
gnomAD v3:
4-177438848-A-G
gnomAD v4:
4-177438848-A-G
PubMed:
PMID:9137882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438848A>G , CM000666.2:g.177438848A>G | GRCh38 |
| NC_000004.11:g.178360002A>G , CM000666.1:g.178360002A>G | GRCh37 |
| NC_000004.10:g.178596996A>G | NCBI36 |
| NG_011845.2:g.8656T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.404T>C MANE Select | ENSP00000264595.2:p.Phe135Ser | |
| ENST00000264595.6:c.404T>C | ENSP00000264595.2:p.Phe135Ser | |
| ENST00000502310.5:c.59T>C | ENSP00000423798.1:p.Phe20Ser | |
| ENST00000506853.5:n.438T>C | ||
| ENST00000510635.1:c.100T>C | ||
| ENST00000510955.5:n.325T>C | ||
| NM_000027.3:c.404T>C | NP_000018.2:p.Phe135Ser | |
| NM_001171988.1:c.404T>C | NP_001165459.1:p.Phe135Ser | |
| NR_033655.1:n.532T>C | ||
| XM_006714123.2:c.404T>C | XP_006714186.1:p.Phe135Ser | |
| XR_001741155.2:n.498T>C | ||
| NM_000027.4:c.404T>C MANE Select | NP_000018.2:p.Phe135Ser | |
| NM_001171988.2:c.404T>C | NP_001165459.1:p.Phe135Ser | |
| NR_033655.2:n.466T>C |