Linked Data
ClinVar Variation Id:
492240
dbSNP Id:
rs781492750
ExAC:
1:55525194 C / T
gnomAD v2:
1-55525194-C-T
gnomAD v3:
1-55059521-C-T
gnomAD v4:
1-55059521-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059521C>T , CM000663.2:g.55059521C>T | GRCh38 |
| NC_000001.10:g.55525194C>T , CM000663.1:g.55525194C>T | GRCh37 |
| NC_000001.9:g.55297782C>T | NCBI36 |
| NG_009061.1:g.24975C>T , LRG_275:g.24975C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1539C>T | ENSP00000501161.2:p.Asn513= | |
| ENST00000710286.1:c.1896C>T | ENSP00000518176.1:p.Asn632= | |
| ENST00000673903.1:c.1164C>T | ENSP00000501257.1:p.Asn388= | |
| ENST00000673913.1:c.279C>T | ENSP00000501161.1:p.Asn93= | |
| ENST00000302118.5:c.1539C>T MANE Select | ENSP00000303208.5:p.Asn513= | |
| ENST00000490692.1:n.2227+874C>T | ||
| NM_174936.3:c.1539C>T , LRG_275t1:c.1539C>T | NP_777596.2:p.Asn513= | |
| NR_110451.1:n.1146C>T | ||
| XM_011541193.1:c.660C>T | XP_011539495.1:p.Asn220= | |
| NM_174936.4:c.1539C>T MANE Select | NP_777596.2:p.Asn513= | |
| NR_110451.2:n.1146C>T |