Linked Data
ClinVar Variation Id:
379679
dbSNP Id:
rs116173262
ExAC:
6:158541468 T / C
gnomAD v2:
6-158541468-T-C
gnomAD v3:
6-158120436-T-C
gnomAD v4:
6-158120436-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158120436T>C , CM000668.2:g.158120436T>C | GRCh38 |
| NC_000006.11:g.158541468T>C , CM000668.1:g.158541468T>C | GRCh37 |
| NC_000006.10:g.158461456T>C | NCBI36 |
| NG_032889.1:g.52845A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435180.6:c.417A>G | ENSP00000391168.2:p.Gln139= | |
| ENST00000607071.6:c.*875A>G | ENSP00000475855.1:n.*875A>G | |
| ENST00000642244.1:c.1065A>G | ENSP00000493554.1:p.Gln355= | |
| ENST00000642903.1:c.1155A>G | ENSP00000493559.1:p.Gln385= | |
| ENST00000644972.1:c.1155A>G | ENSP00000496451.1:p.Gln385= | |
| ENST00000645077.1:c.*826A>G | ENSP00000496113.1:n.*826A>G | |
| ENST00000645172.1:c.*857A>G | ENSP00000495367.1:n.*857A>G | |
| ENST00000646190.1:n.2486A>G | ||
| ENST00000646208.1:c.891A>G | ENSP00000493723.1:p.Gln297= | |
| ENST00000646410.1:c.1026A>G | ENSP00000494205.1:p.Gln342= | |
| ENST00000646562.1:c.*989A>G | ENSP00000496087.1:n.*989A>G | |
| ENST00000647468.2:c.1155A>G MANE Select | ENSP00000496731.1:p.Gln385= | |
| ENST00000648111.1:c.*799A>G | ENSP00000497275.1:n.*799A>G | |
| ENST00000367101.5:c.1155A>G | ENSP00000356068.1:p.Gln385= | |
| ENST00000367104.7:c.1155A>G | ENSP00000356071.3:p.Gln385= | |
| ENST00000606965.5:c.1041A>G | ENSP00000475808.1:p.Gln347= | |
| ENST00000607071.5:c.*1089A>G | ENSP00000475855.1:n.*1089A>G | |
| ENST00000607742.5:c.*989A>G | ENSP00000475523.1:n.*989A>G | |
| NM_032861.3:c.1155A>G | NP_116250.3:p.Gln385= | |
| NR_073096.1:n.1183A>G | ||
| XM_006715586.1:c.945A>G | XP_006715649.1:p.Gln315= | |
| XM_011536196.1:c.1134A>G | XP_011534498.1:p.Gln378= | |
| XM_011536197.1:c.1041A>G | XP_011534499.1:p.Gln347= | |
| XM_011536198.1:c.945A>G | XP_011534500.1:p.Gln315= | |
| XR_942606.1:n.1156A>G | ||
| XM_006715586.3:c.945A>G | XP_006715649.1:p.Gln315= | |
| XM_011536196.3:c.1134A>G | XP_011534498.1:p.Gln378= | |
| XM_011536198.3:c.945A>G | XP_011534500.1:p.Gln315= | |
| XM_024446573.1:c.1155A>G | XP_024302341.1:p.Gln385= | |
| XR_001743697.2:n.1236A>G | ||
| XR_942606.2:n.1287A>G | ||
| NM_032861.4:c.1155A>G MANE Select | NP_116250.3:p.Gln385= | |
| NR_073096.2:n.1165A>G |