Linked Data
dbSNP Id:
rs1372942384
gnomAD v2:
6-150720253-C-T
gnomAD v3:
6-150399117-C-T
gnomAD v4:
6-150399117-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150399117C>T , CM000668.2:g.150399117C>T | GRCh38 |
| NC_000006.11:g.150720253C>T , CM000668.1:g.150720253C>T | GRCh37 |
| NC_000006.10:g.150761946C>T | NCBI36 |
| NG_016007.1:g.35226C>T | |
| NG_016007.2:g.35226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344419.8:c.*880C>T MANE Select | ENSP00000343763.4:n.*880C>T | |
| ENST00000229447.9:c.*980C>T | ENSP00000229447.5:n.*980C>T | |
| ENST00000344419.7:c.*880C>T | ENSP00000343763.3:n.*880C>T | |
| NM_001164694.1:c.*980C>T | NP_001158166.1:n.*980C>T | |
| NM_001164695.1:c.*1067C>T | NP_001158167.1:n.*1067C>T | |
| NM_203395.2:c.*880C>T | NP_981932.1:n.*880C>T | |
| NM_001318495.1:c.*880C>T | NP_001305424.1:n.*880C>T | |
| NR_134655.1:n.2063C>T | ||
| NM_001164694.2:c.*980C>T | NP_001158166.1:n.*980C>T | |
| NM_001164695.2:c.*1067C>T | NP_001158167.1:n.*1067C>T | |
| NM_001318495.2:c.*880C>T | NP_001305424.1:n.*880C>T | |
| NM_203395.3:c.*880C>T MANE Select | NP_981932.1:n.*880C>T | |
| NR_134655.2:n.1943C>T |