Linked Data
ClinVar Variation Id:
338426
dbSNP Id:
rs138290205
ExAC:
20:43042335 C / T
gnomAD v2:
20-43042335-C-T
gnomAD v3:
20-44413695-C-T
gnomAD v4:
20-44413695-C-T
ERepo:
CA9870224/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44413695C>T , CM000682.2:g.44413695C>T | GRCh38 |
| NC_000020.10:g.43042335C>T , CM000682.1:g.43042335C>T | GRCh37 |
| NC_000020.9:g.42475749C>T | NCBI36 |
| NG_009818.1:g.62895C>T , LRG_483:g.62895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.321C>T MANE Select | ENSP00000315180.4:p.Ala107= | |
| ENST00000316099.10:c.387C>T | ENSP00000312987.3:p.Ala129= | |
| ENST00000619550.5:c.361C>T | ||
| ENST00000683148.1:n.363C>T | ||
| ENST00000683657.1:n.1511C>T | ||
| ENST00000316099.9:c.387C>T | ENSP00000312987.3:p.Ala129= | |
| ENST00000316099.8:c.387C>T | ENSP00000312987.3:p.Ala129= | |
| ENST00000316673.8:c.321C>T | ENSP00000315180.4:p.Ala107= | |
| ENST00000372920.1:c.*154C>T | ENSP00000362011.1:n.*154C>T | |
| ENST00000415691.2:c.387C>T | ENSP00000412111.1:p.Ala129= | |
| ENST00000443598.6:c.387C>T | ENSP00000410911.2:p.Ala129= | |
| ENST00000457232.5:c.321C>T | ENSP00000396216.1:p.Ala107= | |
| ENST00000609795.5:c.321C>T | ENSP00000476609.1:p.Ala107= | |
| ENST00000619550.4:c.312C>T | ENSP00000481331.1:p.Ala104= | |
| NM_000457.4:c.387C>T , LRG_483t2:c.387C>T | NP_000448.3:p.Ala129= | |
| NM_001030003.2:c.321C>T | NP_001025174.1:p.Ala107= | |
| NM_001030004.2:c.321C>T | NP_001025175.1:p.Ala107= | |
| NM_001258355.1:c.366C>T | NP_001245284.1:p.Ala122= | |
| NM_001287182.1:c.312C>T | NP_001274111.1:p.Ala104= | |
| NM_001287183.1:c.312C>T , LRG_483t3:c.312C>T | NP_001274112.1:p.Ala104= | |
| NM_001287184.1:c.312C>T | NP_001274113.1:p.Ala104= | |
| NM_175914.4:c.321C>T , LRG_483t1:c.321C>T | NP_787110.2:p.Ala107= | |
| NM_178849.2:c.387C>T | NP_849180.1:p.Ala129= | |
| NM_178850.2:c.387C>T | NP_849181.1:p.Ala129= | |
| XM_005260407.2:c.504C>T | XP_005260464.1:p.Ala168= | |
| XM_011528797.1:c.435C>T | XP_011527099.1:p.Ala145= | |
| XM_011528798.1:c.435C>T | XP_011527100.1:p.Ala145= | |
| XM_005260407.4:c.504C>T | XP_005260464.1:p.Ala168= | |
| NM_001030003.3:c.321C>T | NP_001025174.1:p.Ala107= | |
| NM_001030004.3:c.321C>T | NP_001025175.1:p.Ala107= | |
| NM_001258355.2:c.366C>T | NP_001245284.1:p.Ala122= | |
| NM_001287182.2:c.312C>T | NP_001274111.1:p.Ala104= | |
| NM_001287184.2:c.312C>T | NP_001274113.1:p.Ala104= | |
| NM_178849.3:c.387C>T | NP_849180.1:p.Ala129= | |
| NM_178850.3:c.387C>T | NP_849181.1:p.Ala129= | |
| NM_000457.5:c.387C>T | NP_000448.3:p.Ala129= | |
| NM_000457.6:c.387C>T | NP_000448.3:p.Ala129= | |
| NM_001287183.2:c.312C>T | NP_001274112.1:p.Ala104= | |
| NM_175914.5:c.321C>T MANE Select | NP_787110.2:p.Ala107= |