Linked Data
dbSNP Id:
rs1475638470
gnomAD v2:
1-236925767-A-G
gnomAD v3:
1-236762467-A-G
gnomAD v4:
1-236762467-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236762467A>G , CM000663.2:g.236762467A>G | GRCh38 |
| NC_000001.10:g.236925767A>G , CM000663.1:g.236925767A>G | GRCh37 |
| NC_000001.9:g.234992390A>G | NCBI36 |
| NG_009081.1:g.80998A>G | |
| NG_009081.2:g.103327A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.2533A>G | ENSP00000443495.1:p.Ile845Val | |
| ENST00000461367.2:n.829A>G | ||
| ENST00000492634.7:n.2463A>G | ||
| ENST00000682015.1:c.2440A>G | ENSP00000506961.1:p.Ile814Val | |
| ENST00000682490.1:n.451A>G | ||
| ENST00000682692.1:n.3628A>G | ||
| ENST00000682966.1:n.8174A>G | ||
| ENST00000683111.1:c.*1819A>G | ENSP00000507913.1:n.*1819A>G | |
| ENST00000683322.1:n.3885A>G | ||
| ENST00000683805.1:n.1324A>G | ||
| ENST00000684050.1:n.5171A>G | ||
| ENST00000684122.1:n.1967A>G | ||
| ENST00000684286.1:n.4088A>G | ||
| ENST00000684502.1:n.3830A>G | ||
| ENST00000684763.1:n.1148A>G | ||
| ENST00000366578.6:c.2533A>G MANE Select | ENSP00000355537.4:p.Ile845Val | |
| ENST00000492634.6:n.2463A>G | ||
| ENST00000542672.6:c.2533A>G | ENSP00000443495.1:p.Ile845Val | |
| ENST00000651091.1:c.2223A>G | ENSP00000498677.1:n.2223A>G | |
| ENST00000651275.1:c.2425A>G | ENSP00000498926.1:p.Ile809Val | |
| ENST00000651781.1:c.1613A>G | ||
| ENST00000651786.1:c.*1905A>G | ENSP00000498364.1:n.*1905A>G | |
| ENST00000652096.1:c.*1938A>G | ENSP00000498896.1:n.*1938A>G | |
| ENST00000366578.5:c.2533A>G | ENSP00000355537.4:p.Ile845Val | |
| ENST00000461367.1:n.742A>G | ||
| ENST00000542672.5:c.2533A>G | ENSP00000443495.1:p.Ile845Val | |
| ENST00000546208.5:c.1909A>G | ENSP00000438384.2:p.Ile637Val | |
| NM_001103.3:c.2533A>G | NP_001094.1:p.Ile845Val | |
| NM_001278343.1:c.2533A>G | NP_001265272.1:p.Ile845Val | |
| NM_001278344.1:c.1909A>G | NP_001265273.1:p.Ile637Val | |
| NM_001278343.2:c.2533A>G | NP_001265272.1:p.Ile845Val | |
| NM_001103.4:c.2533A>G MANE Select | NP_001094.1:p.Ile845Val | |
| NM_001278344.2:c.1909A>G | NP_001265273.1:p.Ile637Val |