Linked Data
ClinVar Variation Id:
1179581
ClinVar RCV Id:
RCV001536598
dbSNP Id:
rs760642357
ExAC:
16:10274272 C / A
gnomAD v2:
16-10274272-C-A
gnomAD v3:
16-10180415-C-A
gnomAD v4:
16-10180415-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10180415C>A , CM000678.2:g.10180415C>A | GRCh38 |
| NC_000016.9:g.10274272C>A , CM000678.1:g.10274272C>A | GRCh37 |
| NC_000016.8:g.10181773C>A | NCBI36 |
| NG_011812.1:g.7340G>T | |
| NG_011812.2:g.7340G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.-4G>T MANE Select | ENSP00000332549.3:n.-4G>T | |
| ENST00000636406.1:c.-4G>T | ENSP00000490676.1:n.-4G>T | |
| ENST00000637188.1:c.-4G>T | ENSP00000489946.1:n.-4G>T | |
| ENST00000675189.1:n.481G>T | ||
| ENST00000675398.1:c.-4G>T | ENSP00000502752.1:n.-4G>T | |
| ENST00000676032.1:n.430G>T | ||
| ENST00000330684.3:c.-4G>T | ENSP00000332549.3:n.-4G>T | |
| ENST00000396573.6:c.-4G>T | ENSP00000379818.2:n.-4G>T | |
| ENST00000562109.5:c.-4G>T | ENSP00000454998.1:n.-4G>T | |
| ENST00000566665.1:n.398G>T | ||
| NM_000833.4:c.-4G>T | NP_000824.1:n.-4G>T | |
| NM_001134407.2:c.-4G>T | NP_001127879.1:n.-4G>T | |
| NM_001134408.2:c.-4G>T | NP_001127880.1:n.-4G>T | |
| XM_011522461.1:c.-4G>T | XP_011520763.1:n.-4G>T | |
| XM_011522461.3:c.-4G>T | XP_011520763.1:n.-4G>T | |
| XM_017023172.1:c.153G>T | XP_016878661.1:p.Ala51= | |
| XM_017023173.1:c.153G>T | XP_016878662.1:p.Ala51= | |
| NM_001134407.3:c.-4G>T MANE Select | NP_001127879.1:n.-4G>T | |
| NM_000833.5:c.-4G>T | NP_000824.1:n.-4G>T |