Linked Data
ClinVar Variation Id:
769606
dbSNP Id:
rs200510630
ExAC:
3:58510194 G / A
gnomAD v2:
3-58510194-G-A
gnomAD v3:
3-58524467-G-A
gnomAD v4:
3-58524467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58524467G>A , CM000665.2:g.58524467G>A | GRCh38 |
| NC_000003.11:g.58510194G>A , CM000665.1:g.58510194G>A | GRCh37 |
| NC_000003.10:g.58485234G>A | NCBI36 |
| NG_052668.1:g.17736C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302819.10:c.1485C>T MANE Select | ENSP00000307697.5:p.Cys495= | |
| ENST00000302819.9:c.1485C>T | ENSP00000307697.5:p.Cys495= | |
| ENST00000459701.6:c.1443C>T | ENSP00000418562.2:p.Cys481= | |
| ENST00000467738.1:n.423C>T | ||
| ENST00000489472.1:c.864C>T | ENSP00000418515.1:n.864C>T | |
| NM_003500.3:c.1485C>T | NP_003491.1:p.Cys495= | |
| XM_005265505.1:c.1485C>T | XP_005265562.1:p.Cys495= | |
| XM_005265506.2:c.1275C>T | XP_005265563.1:p.Cys425= | |
| XM_006713340.2:c.1191C>T | XP_006713403.1:p.Cys397= | |
| XM_011534147.1:c.1650C>T | XP_011532449.1:p.Cys550= | |
| XM_011534148.1:c.1191C>T | XP_011532450.1:p.Cys397= | |
| XM_006713340.3:c.1191C>T | XP_006713403.1:p.Cys397= | |
| XM_017007302.2:c.1275C>T | XP_016862791.1:p.Cys425= | |
| XM_024453786.1:c.1275C>T | XP_024309554.1:p.Cys425= | |
| NM_003500.4:c.1485C>T MANE Select | NP_003491.1:p.Cys495= |