Linked Data
ClinVar Variation Id:
10522
ClinVar RCV Id:
RCV000011268
dbSNP Id:
rs137852298
gnomAD v4:
X-9760811-G-A
PubMed:
PMID:17516023
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9760811G>A , CM000685.2:g.9760811G>A | GRCh38 |
| NC_000023.10:g.9728851G>A , CM000685.1:g.9728851G>A | GRCh37 |
| NC_000023.9:g.9688851G>A | NCBI36 |
| NG_009074.1:g.10067C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467482.6:c.266C>T MANE Select | ENSP00000417161.1:p.Ser89Phe | |
| ENST00000431126.1:c.14C>T | ENSP00000406138.1:p.Ser5Phe | |
| ENST00000447366.5:c.14C>T | ENSP00000390546.2:p.Ser5Phe | |
| ENST00000467482.5:c.266C>T | ENSP00000417161.1:p.Ser89Phe | |
| NM_000273.2:c.266C>T | NP_000264.2:p.Ser89Phe | |
| XM_005274541.2:c.266C>T | XP_005274598.1:p.Ser89Phe | |
| XM_005274541.3:c.266C>T | XP_005274598.1:p.Ser89Phe | |
| XM_024452387.1:c.14C>T | XP_024308155.1:p.Ser5Phe | |
| XM_024452388.1:c.14C>T | XP_024308156.1:p.Ser5Phe | |
| NM_000273.3:c.266C>T MANE Select | NP_000264.2:p.Ser89Phe |