Linked Data
ClinVar Variation Id:
1030567
ClinVar RCV Id:
RCV001332145
dbSNP Id:
rs562405336
ExAC:
3:119217579 C / T
gnomAD v2:
3-119217579-C-T
gnomAD v3:
3-119498732-C-T
gnomAD v4:
3-119498732-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119498732C>T , CM000665.2:g.119498732C>T | GRCh38 |
| NC_000003.11:g.119217579C>T , CM000665.1:g.119217579C>T | GRCh37 |
| NC_000003.10:g.120700269C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494664.6:c.-2C>T MANE Select | ENSP00000418803.1:n.-2C>T | |
| ENST00000264244.7:c.-2C>T | ENSP00000264244.3:n.-2C>T | |
| ENST00000463927.6:c.-2C>T | ENSP00000417205.2:n.-2C>T | |
| ENST00000466984.1:c.-2C>T | ENSP00000420122.1:n.-2C>T | |
| ENST00000486418.5:c.-2C>T | ENSP00000417083.1:n.-2C>T | |
| ENST00000492164.5:c.-2C>T | ENSP00000418846.1:n.-2C>T | |
| ENST00000493694.1:c.-2C>T | ENSP00000419510.1:n.-2C>T | |
| ENST00000494664.5:c.-2C>T | ENSP00000418803.1:n.-2C>T | |
| NM_016589.3:c.-2C>T | NP_057673.2:n.-2C>T | |
| XM_017006556.1:c.-2C>T | XP_016862045.1:n.-2C>T | |
| NM_016589.4:c.-2C>T MANE Select | NP_057673.2:n.-2C>T |