Linked Data
ClinVar Variation Id:
402455
ClinVar RCV Id:
RCV000455480
dbSNP Id:
rs25681
ExAC:
9:123780005 G / A
gnomAD v2:
9-123780005-G-A
gnomAD v3:
9-121017727-G-A
gnomAD v4:
9-121017727-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121017727G>A , CM000671.2:g.121017727G>A | GRCh38 |
| NC_000009.11:g.123780005G>A , CM000671.1:g.123780005G>A | GRCh37 |
| NC_000009.10:g.122819826G>A | NCBI36 |
| NG_007364.1:g.37550C>T , LRG_28:g.37550C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466280.2:c.627C>T | ENSP00000513491.1:p.Tyr209= | |
| ENST00000696279.1:c.1952C>T | ||
| ENST00000696280.1:n.1721C>T | ||
| ENST00000696281.1:c.1650C>T | ENSP00000512521.1:p.Tyr550= | |
| ENST00000697921.1:n.510C>T | ||
| ENST00000697922.1:c.*1622C>T | ENSP00000513478.1:n.*1622C>T | |
| ENST00000697923.1:n.2237C>T | ||
| ENST00000223642.3:c.1632C>T MANE Select | ENSP00000223642.1:p.Tyr544= | |
| ENST00000223642.2:c.1632C>T | ENSP00000223642.1:p.Tyr544= | |
| NM_001735.2:c.1632C>T , LRG_28t1:c.1632C>T | NP_001726.2:p.Tyr544= | |
| XM_011518980.1:c.1647C>T | XP_011517282.1:p.Tyr549= | |
| XM_011518981.1:c.1650C>T | XP_011517283.1:p.Tyr550= | |
| NM_001317163.1:c.1650C>T | NP_001304092.1:p.Tyr550= | |
| NM_001317164.1:c.1632C>T | NP_001304093.1:p.Tyr544= | |
| NM_001317163.2:c.1650C>T | NP_001304092.1:p.Tyr550= | |
| NM_001317164.2:c.1632C>T | NP_001304093.1:p.Tyr544= | |
| NM_001735.3:c.1632C>T MANE Select | NP_001726.2:p.Tyr544= |