Linked Data
ClinVar Variation Id:
2817878
ClinVar RCV Id:
RCV003711453
dbSNP Id:
rs2046471601
gnomAD v4:
17-18145925-C-T
MyVariant Identifiers:
chr17:g.18049239C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18145925C>T , CM000679.2:g.18145925C>T | GRCh38 |
| NC_000017.10:g.18049239C>T , CM000679.1:g.18049239C>T | GRCh37 |
| NC_000017.9:g.17989964C>T | NCBI36 |
| NG_011634.1:g.42220C>T | |
| NG_011634.2:g.42220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6327C>T MANE Select | ENSP00000495481.1:p.Phe2109= | |
| ENST00000205890.9:c.6327C>T | ENSP00000205890.5:p.Phe2109= | |
| ENST00000615845.4:c.6327C>T | ENSP00000481642.1:p.Phe2109= | |
| NM_016239.3:c.6327C>T | NP_057323.3:p.Phe2109= | |
| XM_011523917.1:c.6267C>T | XP_011522219.1:p.Phe2089= | |
| XM_011523918.1:c.6267C>T | XP_011522220.1:p.Phe2089= | |
| XM_011523921.1:c.6321C>T | XP_011522223.1:p.Phe2107= | |
| XR_934037.1:n.6926C>T | ||
| XR_934038.1:n.6926C>T | ||
| XM_011523918.2:c.6267C>T | XP_011522220.1:p.Phe2089= | |
| XM_017024714.2:c.6267C>T | XP_016880203.1:p.Phe2089= | |
| XM_017024715.2:c.6330C>T | XP_016880204.1:p.Phe2110= | |
| XM_024450781.1:c.6213+1333C>T | XP_024306549.1:n.6213+1333C>T | |
| NM_016239.4:c.6327C>T MANE Select | NP_057323.3:p.Phe2109= |