Linked Data
dbSNP Id:
rs1048372
ExAC:
6:32610436 T / C
gnomAD v2:
6-32610436-T-C
gnomAD v3:
6-32642659-T-C
gnomAD v4:
6-32642659-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32642659T>C , CM000668.2:g.32642659T>C | GRCh38 |
| NC_000006.11:g.32610436T>C , CM000668.1:g.32610436T>C | GRCh37 |
| NC_000006.10:g.32718414T>C | NCBI36 |
| NG_032876.1:g.10254T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343139.11:c.663T>C MANE Select | ENSP00000339398.5:p.Cys221= | |
| ENST00000343139.9:c.663T>C | ENSP00000339398.5:p.Cys221= | |
| ENST00000374949.2:c.663T>C | ENSP00000364087.2:p.Cys221= | |
| ENST00000395363.5:c.663T>C | ENSP00000378767.1:p.Cys221= | |
| ENST00000460633.1:n.1047T>C | ||
| ENST00000482745.5:c.*1495T>C | ENSP00000436546.1:n.*1495T>C | |
| ENST00000496318.5:c.614-293T>C | ENSP00000437302.1:n.614-293T>C | |
| NM_002122.3:c.663T>C | NP_002113.2:p.Cys221= | |
| XM_006715079.2:c.613+406T>C | XP_006715142.1:n.613+406T>C | |
| XM_006715079.4:c.613+406T>C | XP_006715142.1:n.613+406T>C | |
| XR_001744085.1:n.15A>G | ||
| NM_002122.5:c.663T>C MANE Select | NP_002113.2:p.Cys221= |