Linked Data
ClinVar Variation Id:
733049
ClinVar RCV Id:
RCV000908271
dbSNP Id:
rs193026789
ExAC:
17:42429415 C / T
gnomAD v2:
17-42429415-C-T
gnomAD v3:
17-44352047-C-T
gnomAD v4:
17-44352047-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352047C>T , CM000679.2:g.44352047C>T | GRCh38 |
| NC_000017.10:g.42429415C>T , CM000679.1:g.42429415C>T | GRCh37 |
| NC_000017.9:g.39784941C>T | NCBI36 |
| NG_007886.1:g.11925C>T , LRG_661:g.11925C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000053867.8:c.1212C>T MANE Select | ENSP00000053867.2:p.Cys404= | |
| ENST00000639447.1:c.1136+295C>T | ENSP00000492014.1:n.1136+295C>T | |
| ENST00000053867.7:c.1212C>T | ENSP00000053867.2:p.Cys404= | |
| ENST00000586443.1:c.653C>T | ||
| ENST00000589265.5:c.741C>T | ENSP00000467616.1:p.Cys247= | |
| NM_002087.3:c.1212C>T | NP_002078.1:p.Cys404= | |
| XM_005257253.1:c.1212C>T | XP_005257310.1:p.Cys404= | |
| XM_024450730.1:c.1212C>T | XP_024306498.1:p.Cys404= | |
| NM_002087.4:c.1212C>T MANE Select | NP_002078.1:p.Cys404= |