Linked Data
ClinVar Variation Id:
8100
ClinVar RCV Id:
RCV000008568
dbSNP Id:
rs121917841
PubMed:
PMID:10946881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177994185A>G , CM000667.2:g.177994185A>G | GRCh38 |
| NC_000005.9:g.177421186A>G , CM000667.1:g.177421186A>G | GRCh37 |
| NC_000005.8:g.177353792A>G | NCBI36 |
| NG_015889.1:g.7058T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308304.2:c.263T>C MANE Select | ENSP00000311290.2:p.Phe88Ser | |
| NM_006261.4:c.263T>C | NP_006252.3:p.Phe88Ser | |
| NM_006261.5:c.263T>C MANE Select | NP_006252.4:p.Phe88Ser |