Linked Data
ClinVar Variation Id:
1252486
ClinVar RCV Id:
RCV001660782
dbSNP Id:
rs1800668
ExAC:
3:49395757 G / A
gnomAD v2:
3-49395757-G-A
gnomAD v3:
3-49358324-G-A
gnomAD v4:
3-49358324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49358324G>A , CM000665.2:g.49358324G>A | GRCh38 |
| NC_000003.11:g.49395757G>A , CM000665.1:g.49395757G>A | GRCh37 |
| NC_000003.10:g.49370761G>A | NCBI36 |
| NG_012264.1:g.5035C>T | |
| NG_051308.1:g.58774C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496791.3:c.-46C>T | ENSP00000493593.2:n.-46C>T | |
| ENST00000643797.2:c.-46C>T | ENSP00000495108.1:n.-46C>T | |
| ENST00000646881.3:c.-46C>T | ENSP00000495001.2:n.-46C>T | |
| ENST00000703795.1:c.-46C>T | ENSP00000515480.1:n.-46C>T | |
| ENST00000703797.1:c.-46C>T | ENSP00000515482.1:n.-46C>T | |
| ENST00000704356.1:c.-46C>T | ENSP00000515867.1:n.-46C>T | |
| ENST00000704375.1:c.-46C>T | ENSP00000515880.1:n.-46C>T | |
| ENST00000704377.1:c.-46C>T | ENSP00000515882.1:n.-46C>T | |
| ENST00000704378.1:c.-46C>T | ENSP00000515883.1:n.-46C>T | |
| ENST00000704379.1:n.125+492C>T | ||
| ENST00000704380.1:n.86-577C>T | ||
| ENST00000704381.1:c.465-577C>T | ENSP00000515884.1:n.465-577C>T | |
| ENST00000419783.3:c.-46C>T MANE Select | ENSP00000407375.1:n.-46C>T | |
| ENST00000496791.2:c.-46C>T | ENSP00000493593.2:n.-46C>T | |
| ENST00000643797.1:c.-46C>T | ENSP00000495108.1:n.-46C>T | |
| ENST00000646881.2:c.-46C>T | ENSP00000495001.2:n.-46C>T | |
| ENST00000419783.1:c.-46C>T | ENSP00000407375.1:n.-46C>T | |
| ENST00000496791.1:n.2C>T | ||
| ENST00000620890.1:c.-46C>T | ENSP00000478837.1:n.-46C>T | |
| NM_000581.2:c.-46C>T | NP_000572.2:n.-46C>T | |
| NM_201397.1:c.-46C>T | NP_958799.1:n.-46C>T | |
| NM_000581.3:c.-46C>T | NP_000572.2:n.-46C>T | |
| NM_001329455.1:c.-46C>T | NP_001316384.1:n.-46C>T | |
| NM_001329502.1:c.-46C>T | NP_001316431.1:n.-46C>T | |
| NM_001329503.1:c.-46C>T | NP_001316432.1:n.-46C>T | |
| NM_201397.2:c.-46C>T | NP_958799.1:n.-46C>T | |
| NM_000581.4:c.-46C>T MANE Select | NP_000572.2:n.-46C>T | |
| NM_001329502.2:c.-46C>T | NP_001316431.1:n.-46C>T | |
| NM_001329503.2:c.-46C>T | NP_001316432.1:n.-46C>T | |
| NM_201397.3:c.-46C>T | NP_958799.1:n.-46C>T | |
| NM_001329455.2:c.-46C>T | NP_001316384.1:n.-46C>T |