Linked Data
ClinVar Variation Id:
92907
dbSNP Id:
rs192732174
ExAC:
3:33109737 G / A
gnomAD v2:
3-33109737-G-A
gnomAD v3:
3-33068245-G-A
gnomAD v4:
3-33068245-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33068245G>A , CM000665.2:g.33068245G>A | GRCh38 |
| NC_000003.11:g.33109737G>A , CM000665.1:g.33109737G>A | GRCh37 |
| NC_000003.10:g.33084741G>A | NCBI36 |
| NG_009005.1:g.33958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.442C>T MANE Select | ENSP00000306920.4:p.Arg148Cys | |
| ENST00000307363.9:c.442C>T | ENSP00000306920.4:p.Arg148Cys | |
| ENST00000307377.12:c.246-2688C>T | ENSP00000305920.8:n.246-2688C>T | |
| ENST00000399402.7:c.352C>T | ENSP00000382333.2:p.Arg118Cys | |
| ENST00000415454.1:c.76-9976C>T | ENSP00000411813.1:n.76-9976C>T | |
| ENST00000438227.1:c.76-2688C>T | ENSP00000401250.1:n.76-2688C>T | |
| ENST00000440656.1:c.49C>T | ENSP00000411769.1:p.Arg17Cys | |
| ENST00000446732.5:c.156-2688C>T | ENSP00000407365.1:n.156-2688C>T | |
| ENST00000464355.1:n.400C>T | ||
| ENST00000482097.5:n.109-14696C>T | ||
| ENST00000485698.5:n.137-14696C>T | ||
| ENST00000498537.5:n.133-14696C>T | ||
| NM_000404.2:c.442C>T | NP_000395.2:p.Arg148Cys | |
| NM_000404.3:c.442C>T | NP_000395.2:p.Arg148Cys | |
| NM_001079811.1:c.352C>T | NP_001073279.1:p.Arg118Cys | |
| NM_001079811.2:c.352C>T | NP_001073279.1:p.Arg118Cys | |
| NM_001135602.1:c.246-2688C>T | NP_001129074.1:n.246-2688C>T | |
| NM_001135602.2:c.246-2688C>T | NP_001129074.1:n.246-2688C>T | |
| NM_001317040.1:c.586C>T | NP_001303969.1:p.Arg196Cys | |
| NM_000404.4:c.442C>T MANE Select | NP_000395.3:p.Arg148Cys | |
| NM_001079811.3:c.352C>T | NP_001073279.2:p.Arg118Cys | |
| NM_001135602.3:c.246-2688C>T | NP_001129074.2:n.246-2688C>T | |
| NM_001317040.2:c.586C>T | NP_001303969.2:p.Arg196Cys | |
| NM_001393580.1:c.442C>T | NP_001380509.1:p.Arg148Cys |