Linked Data
ClinVar Variation Id:
9232
ClinVar RCV Id:
RCV000009813
dbSNP Id:
rs2276631
ExAC:
2:219249013 C / T
gnomAD v2:
2-219249013-C-T
gnomAD v3:
2-218384290-C-T
gnomAD v4:
2-218384290-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218384290C>T , CM000664.2:g.218384290C>T | GRCh38 |
| NC_000002.11:g.219249013C>T , CM000664.1:g.219249013C>T | GRCh37 |
| NC_000002.10:g.218957257C>T | NCBI36 |
| NG_012128.1:g.7262C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233202.11:c.198C>T MANE Select | ENSP00000233202.6:p.Phe66= | |
| ENST00000233202.10:c.198C>T | ENSP00000233202.6:p.Phe66= | |
| ENST00000354352.9:c.198C>T | ENSP00000346320.5:p.Phe66= | |
| ENST00000465984.5:n.332-857C>T | ||
| ENST00000468221.5:n.1678C>T | ||
| ENST00000469449.1:n.604C>T | ||
| ENST00000469799.5:n.98-857C>T | ||
| ENST00000471875.5:n.145C>T | ||
| ENST00000473367.5:c.151-29C>T | ENSP00000484905.1:n.151-29C>T | |
| ENST00000475225.5:n.186-29C>T | ||
| ENST00000481524.5:c.8-857C>T | ENSP00000483970.1:n.8-857C>T | |
| ENST00000483487.2:n.124C>T | ||
| ENST00000492413.5:n.280C>T | ||
| ENST00000494322.5:n.294C>T | ||
| ENST00000539932.5:c.55C>T | ENSP00000443435.2:p.Pro19Ser | |
| NM_000578.3:c.198C>T | NP_000569.3:p.Phe66= | |
| XM_005246793.2:c.-4C>T | XP_005246850.1:n.-4C>T | |
| XM_005246794.2:c.-231C>T | XP_005246851.1:n.-231C>T | |
| XM_006712709.2:c.-231C>T | XP_006712772.1:n.-231C>T | |
| XM_006712710.2:c.-155-857C>T | XP_006712773.1:n.-155-857C>T | |
| XM_006712711.2:c.-174-857C>T | XP_006712774.1:n.-174-857C>T | |
| XM_011511684.1:c.-239C>T | XP_011509986.1:n.-239C>T | |
| XM_011511685.1:c.-239C>T | XP_011509987.1:n.-239C>T | |
| XR_427107.1:n.361C>T | ||
| XR_427108.2:n.658C>T | ||
| XM_005246793.4:c.-4C>T | XP_005246850.1:n.-4C>T | |
| XM_005246794.4:c.-231C>T | XP_005246851.1:n.-231C>T | |
| XM_006712709.4:c.-231C>T | XP_006712772.1:n.-231C>T | |
| XM_006712710.4:c.-155-857C>T | XP_006712773.1:n.-155-857C>T | |
| XM_006712711.4:c.-174-857C>T | XP_006712774.1:n.-174-857C>T | |
| XM_011511684.3:c.-239C>T | XP_011509986.1:n.-239C>T | |
| XM_011511685.3:c.-239C>T | XP_011509987.1:n.-239C>T | |
| XM_017004765.2:c.151-857C>T | XP_016860254.1:n.151-857C>T | |
| XM_017004766.2:c.-4C>T | XP_016860255.1:n.-4C>T | |
| XM_017004767.2:c.198C>T | XP_016860256.1:p.Phe66= | |
| XR_427107.3:n.347C>T | ||
| XR_427108.4:n.658C>T | ||
| NM_000578.4:c.198C>T MANE Select | NP_000569.3:p.Phe66= |