Linked Data
dbSNP Id:
rs756323443
ExAC:
1:27105558 C / T
gnomAD v2:
1-27105558-C-T
gnomAD v3:
1-26779067-C-T
gnomAD v4:
1-26779067-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26779067C>T , CM000663.2:g.26779067C>T | GRCh38 |
| NC_000001.10:g.27105558C>T , CM000663.1:g.27105558C>T | GRCh37 |
| NC_000001.9:g.26978145C>T | NCBI36 |
| NG_029965.1:g.88037C>T , LRG_875:g.88037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.5169C>T MANE Select | ENSP00000320485.7:p.Cys1723= | |
| ENST00000374152.7:c.4020C>T | ENSP00000363267.2:p.Cys1340= | |
| ENST00000430799.7:c.4017C>T | ENSP00000390317.3:p.Cys1339= | |
| ENST00000466382.2:c.586C>T | ||
| ENST00000636219.1:c.4023C>T | ENSP00000489842.1:p.Cys1341= | |
| ENST00000637788.1:n.969C>T | ||
| ENST00000324856.11:c.5169C>T | ENSP00000320485.7:p.Cys1723= | |
| ENST00000374152.6:c.4020C>T | ENSP00000363267.2:p.Cys1340= | |
| ENST00000430799.6:c.1858C>T | ||
| ENST00000457599.6:c.4518C>T | ENSP00000387636.2:p.Cys1506= | |
| ENST00000466382.1:c.586C>T | ||
| ENST00000532781.1:c.667C>T | ||
| NM_006015.4:c.5169C>T , LRG_875t1:c.5169C>T | NP_006006.3:p.Cys1723= | |
| NM_139135.2:c.4518C>T | NP_624361.1:p.Cys1506= | |
| NM_006015.5:c.5169C>T | NP_006006.3:p.Cys1723= | |
| NM_139135.3:c.4518C>T | NP_624361.1:p.Cys1506= | |
| NM_006015.6:c.5169C>T MANE Select | NP_006006.3:p.Cys1723= | |
| NM_139135.4:c.4518C>T | NP_624361.1:p.Cys1506= |