Linked Data
ClinVar Variation Id:
215138
ClinVar RCV Id:
RCV000198230
dbSNP Id:
rs199625765
ExAC:
6:158532382 T / C
gnomAD v2:
6-158532382-T-C
gnomAD v3:
6-158111350-T-C
gnomAD v4:
6-158111350-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158111350T>C , CM000668.2:g.158111350T>C | GRCh38 |
| NC_000006.11:g.158532382T>C , CM000668.1:g.158532382T>C | GRCh37 |
| NC_000006.10:g.158452370T>C | NCBI36 |
| NG_032889.1:g.61931A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1701A>G | ENSP00000475855.1:n.*1701A>G | |
| ENST00000642244.1:c.*16A>G | ENSP00000493554.1:n.*16A>G | |
| ENST00000644972.1:c.*2058A>G | ENSP00000496451.1:n.*2058A>G | |
| ENST00000645077.1:c.*3548A>G | ENSP00000496113.1:n.*3548A>G | |
| ENST00000645172.1:c.*1683A>G | ENSP00000495367.1:n.*1683A>G | |
| ENST00000646190.1:n.3312A>G | ||
| ENST00000646208.1:c.*16A>G | ENSP00000493723.1:n.*16A>G | |
| ENST00000646410.1:c.*16A>G | ENSP00000494205.1:n.*16A>G | |
| ENST00000647468.2:c.*16A>G MANE Select | ENSP00000496731.1:n.*16A>G | |
| ENST00000648111.1:c.*1669A>G | ENSP00000497275.1:n.*1669A>G | |
| ENST00000367104.7:c.*16A>G | ENSP00000356071.3:n.*16A>G | |
| ENST00000607071.5:c.*1915A>G | ENSP00000475855.1:n.*1915A>G | |
| ENST00000607742.5:c.*3259A>G | ENSP00000475523.1:n.*3259A>G | |
| NM_032861.3:c.*16A>G | NP_116250.3:n.*16A>G | |
| XM_006715586.1:c.*16A>G | XP_006715649.1:n.*16A>G | |
| XM_011536196.1:c.*16A>G | XP_011534498.1:n.*16A>G | |
| XM_011536197.1:c.*16A>G | XP_011534499.1:n.*16A>G | |
| XM_011536198.1:c.*16A>G | XP_011534500.1:n.*16A>G | |
| XM_006715586.3:c.*16A>G | XP_006715649.1:n.*16A>G | |
| XM_011536196.3:c.*16A>G | XP_011534498.1:n.*16A>G | |
| XM_011536198.3:c.*16A>G | XP_011534500.1:n.*16A>G | |
| XM_024446573.1:c.*16A>G | XP_024302341.1:n.*16A>G | |
| XR_001743697.2:n.2012A>G | ||
| XR_942606.2:n.2063A>G | ||
| NM_032861.4:c.*16A>G MANE Select | NP_116250.3:n.*16A>G |