Linked Data
ClinVar Variation Id:
463206
dbSNP Id:
rs769940120
ExAC:
1:236925807 A / C
gnomAD v2:
1-236925807-A-C
gnomAD v4:
1-236762507-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236762507A>C , CM000663.2:g.236762507A>C | GRCh38 |
| NC_000001.10:g.236925807A>C , CM000663.1:g.236925807A>C | GRCh37 |
| NC_000001.9:g.234992430A>C | NCBI36 |
| NG_009081.1:g.81038A>C | |
| NG_009081.2:g.103367A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.2573A>C | ENSP00000443495.1:p.Gln858Pro | |
| ENST00000461367.2:n.869A>C | ||
| ENST00000492634.7:n.2503A>C | ||
| ENST00000682015.1:c.2480A>C | ENSP00000506961.1:p.Gln827Pro | |
| ENST00000682490.1:n.491A>C | ||
| ENST00000682692.1:n.3668A>C | ||
| ENST00000682966.1:n.8214A>C | ||
| ENST00000683111.1:c.*1859A>C | ENSP00000507913.1:n.*1859A>C | |
| ENST00000683322.1:n.3925A>C | ||
| ENST00000683805.1:n.1364A>C | ||
| ENST00000684050.1:n.5211A>C | ||
| ENST00000684122.1:n.2007A>C | ||
| ENST00000684286.1:n.4128A>C | ||
| ENST00000684502.1:n.3870A>C | ||
| ENST00000684763.1:n.1188A>C | ||
| ENST00000366578.6:c.2573A>C MANE Select | ENSP00000355537.4:p.Gln858Pro | |
| ENST00000492634.6:n.2503A>C | ||
| ENST00000542672.6:c.2573A>C | ENSP00000443495.1:p.Gln858Pro | |
| ENST00000651091.1:c.2263A>C | ENSP00000498677.1:n.2263A>C | |
| ENST00000651275.1:c.2465A>C | ENSP00000498926.1:p.Gln822Pro | |
| ENST00000651781.1:c.1653A>C | ||
| ENST00000651786.1:c.*1945A>C | ENSP00000498364.1:n.*1945A>C | |
| ENST00000652096.1:c.*1978A>C | ENSP00000498896.1:n.*1978A>C | |
| ENST00000366578.5:c.2573A>C | ENSP00000355537.4:p.Gln858Pro | |
| ENST00000461367.1:n.782A>C | ||
| ENST00000542672.5:c.2573A>C | ENSP00000443495.1:p.Gln858Pro | |
| ENST00000546208.5:c.1949A>C | ENSP00000438384.2:p.Gln650Pro | |
| NM_001103.3:c.2573A>C | NP_001094.1:p.Gln858Pro | |
| NM_001278343.1:c.2573A>C | NP_001265272.1:p.Gln858Pro | |
| NM_001278344.1:c.1949A>C | NP_001265273.1:p.Gln650Pro | |
| NM_001278343.2:c.2573A>C | NP_001265272.1:p.Gln858Pro | |
| NM_001103.4:c.2573A>C MANE Select | NP_001094.1:p.Gln858Pro | |
| NM_001278344.2:c.1949A>C | NP_001265273.1:p.Gln650Pro |