Linked Data
ClinVar Variation Id:
30457
ClinVar RCV Id:
RCV000023410
dbSNP Id:
rs387906898
gnomAD v4:
20-44160293-G-A
PubMed:
PMID:17509612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44160293G>A , CM000682.2:g.44160293G>A | GRCh38 |
| NC_000020.10:g.42788933G>A , CM000682.1:g.42788933G>A | GRCh37 |
| NC_000020.9:g.42222347G>A | NCBI36 |
| NG_031867.1:g.32286C>T , LRG_394:g.32286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.494C>T MANE Select | ENSP00000362071.3:p.Ser165Phe | |
| ENST00000372980.3:c.494C>T | ENSP00000362071.3:p.Ser165Phe | |
| NM_020433.4:c.494C>T , LRG_394t1:c.494C>T | NP_065166.2:p.Ser165Phe | |
| XM_006723832.2:c.494C>T | XP_006723895.1:p.Ser165Phe | |
| NM_020433.5:c.494C>T MANE Select | NP_065166.2:p.Ser165Phe |