Linked Data
dbSNP Id:
rs707962
ExAC:
6:32609974 T / G
gnomAD v2:
6-32609974-T-G
gnomAD v3:
6-32642197-T-G
gnomAD v4:
6-32642197-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32642197T>G , CM000668.2:g.32642197T>G | GRCh38 |
| NC_000006.11:g.32609974T>G , CM000668.1:g.32609974T>G | GRCh37 |
| NC_000006.10:g.32717952T>G | NCBI36 |
| NG_032876.1:g.9792T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343139.11:c.557T>G MANE Select | ENSP00000339398.5:p.Ile186Ser | |
| ENST00000343139.9:c.557T>G | ENSP00000339398.5:p.Ile186Ser | |
| ENST00000374949.2:c.557T>G | ENSP00000364087.2:p.Ile186Ser | |
| ENST00000395363.5:c.557T>G | ENSP00000378767.1:p.Ile186Ser | |
| ENST00000460633.1:n.585T>G | ||
| ENST00000482745.5:c.*1389T>G | ENSP00000436546.1:n.*1389T>G | |
| ENST00000496318.5:c.557T>G | ENSP00000437302.1:p.Ile186Ser | |
| NM_002122.3:c.557T>G | NP_002113.2:p.Ile186Ser | |
| XM_006715079.2:c.557T>G | XP_006715142.1:p.Ile186Ser | |
| XM_006715079.4:c.557T>G | XP_006715142.1:p.Ile186Ser | |
| XR_001744085.1:n.86+391A>C | ||
| NM_002122.5:c.557T>G MANE Select | NP_002113.2:p.Ile186Ser |