Linked Data
ClinVar Variation Id:
991772
dbSNP Id:
rs983316791
gnomAD v2:
3-150690288-C-A
gnomAD v4:
3-150972501-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972501C>A , CM000665.2:g.150972501C>A | GRCh38 |
| NC_000003.11:g.150690288C>A , CM000665.1:g.150690288C>A | GRCh37 |
| NC_000003.10:g.152172978C>A | NCBI36 |
| NG_009168.1:g.5499G>T , LRG_700:g.5499G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.208G>T MANE Select | ENSP00000322280.1:p.Gly70Cys | |
| ENST00000468836.2:c.184G>T | ENSP00000419892.2:p.Gly62Cys | |
| ENST00000644099.1:c.49G>T | ENSP00000494762.1:p.Gly17Cys | |
| ENST00000645441.1:c.50G>T | ||
| ENST00000327047.5:c.208G>T | ENSP00000322280.1:p.Gly70Cys | |
| ENST00000328863.8:c.208G>T | ENSP00000329158.4:p.Gly70Cys | |
| ENST00000468836.1:c.-193G>T | ENSP00000419892.1:n.-193G>T | |
| ENST00000472224.1:n.214G>T | ||
| NM_001195794.1:c.208G>T , LRG_700t1:c.208G>T | NP_001182723.1:p.Gly70Cys | |
| NM_001256819.1:c.208G>T | NP_001243748.1:p.Gly70Cys | |
| NM_174878.2:c.208G>T | NP_777367.1:p.Gly70Cys | |
| NR_046380.2:n.499G>T | ||
| XR_924167.1:n.520G>T | ||
| NM_001256819.2:c.208G>T | NP_001243748.1:p.Gly70Cys | |
| NM_174878.3:c.208G>T MANE Select | NP_777367.1:p.Gly70Cys | |
| NR_046380.3:n.227G>T |