Linked Data
ClinVar Variation Id:
486420
dbSNP Id:
rs1553177279
gnomAD v4:
1-17022660-A-G
PubMed:
PMID:16314641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022660A>G , CM000663.2:g.17022660A>G | GRCh38 |
| NC_000001.10:g.17349155A>G , CM000663.1:g.17349155A>G | GRCh37 |
| NC_000001.9:g.17221742A>G | NCBI36 |
| NG_012340.1:g.36511T>C , LRG_316:g.36511T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.542T>C | ENSP00000481376.2:p.Phe181Ser | |
| ENST00000491274.6:c.671T>C | ENSP00000480482.2:p.Phe224Ser | |
| ENST00000375499.8:c.713T>C MANE Select | ENSP00000364649.3:p.Phe238Ser | |
| ENST00000375499.7:c.713T>C | ENSP00000364649.3:p.Phe238Ser | |
| ENST00000475049.5:n.138T>C | ||
| ENST00000485092.5:n.377T>C | ||
| ENST00000485515.5:n.647T>C | ||
| NM_003000.2:c.713T>C , LRG_316t1:c.713T>C | NP_002991.2:p.Phe238Ser | |
| NM_003000.3:c.713T>C MANE Select | NP_002991.2:p.Phe238Ser |