Linked Data
ClinVar Variation Id:
17765
ClinVar RCV Id:
RCV000019342
dbSNP Id:
rs121912746
PubMed:
PMID:9312167
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44255259G>A , CM000679.2:g.44255259G>A | GRCh38 |
| NC_000017.10:g.42332627G>A , CM000679.1:g.42332627G>A | GRCh37 |
| NC_000017.9:g.39688153G>A | NCBI36 |
| NG_007498.1:g.17876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1838C>T MANE Select | ENSP00000262418.6:p.Ser613Phe | |
| ENST00000262418.10:c.1838C>T | ENSP00000262418.6:p.Ser613Phe | |
| ENST00000399246.3:c.778-38C>T | ENSP00000382190.3:n.778-38C>T | |
| NM_000342.3:c.1838C>T | NP_000333.1:p.Ser613Phe | |
| XM_005257593.3:c.1643C>T | XP_005257650.1:p.Ser548Phe | |
| XM_011525129.1:c.1800+414C>T | XP_011523431.1:n.1800+414C>T | |
| XM_011525130.1:c.1838C>T | XP_011523432.1:p.Ser613Phe | |
| XM_011525131.1:c.1838C>T | XP_011523433.1:p.Ser613Phe | |
| XM_005257593.5:c.1643C>T | XP_005257650.1:p.Ser548Phe | |
| XM_011525129.2:c.1800+414C>T | XP_011523431.1:n.1800+414C>T | |
| NM_000342.4:c.1838C>T MANE Select | NP_000333.1:p.Ser613Phe |