Linked Data
dbSNP Id:
rs755438133
ExAC:
1:236925763 A / G
gnomAD v2:
1-236925763-A-G
gnomAD v4:
1-236762463-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236762463A>G , CM000663.2:g.236762463A>G | GRCh38 |
| NC_000001.10:g.236925763A>G , CM000663.1:g.236925763A>G | GRCh37 |
| NC_000001.9:g.234992386A>G | NCBI36 |
| NG_009081.1:g.80994A>G | |
| NG_009081.2:g.103323A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.2529A>G | ENSP00000443495.1:p.Pro843= | |
| ENST00000461367.2:n.825A>G | ||
| ENST00000492634.7:n.2459A>G | ||
| ENST00000682015.1:c.2436A>G | ENSP00000506961.1:p.Pro812= | |
| ENST00000682490.1:n.447A>G | ||
| ENST00000682692.1:n.3624A>G | ||
| ENST00000682966.1:n.8170A>G | ||
| ENST00000683111.1:c.*1815A>G | ENSP00000507913.1:n.*1815A>G | |
| ENST00000683322.1:n.3881A>G | ||
| ENST00000683805.1:n.1320A>G | ||
| ENST00000684050.1:n.5167A>G | ||
| ENST00000684122.1:n.1963A>G | ||
| ENST00000684286.1:n.4084A>G | ||
| ENST00000684502.1:n.3826A>G | ||
| ENST00000684763.1:n.1144A>G | ||
| ENST00000366578.6:c.2529A>G MANE Select | ENSP00000355537.4:p.Pro843= | |
| ENST00000492634.6:n.2459A>G | ||
| ENST00000542672.6:c.2529A>G | ENSP00000443495.1:p.Pro843= | |
| ENST00000651091.1:c.2219A>G | ENSP00000498677.1:n.2219A>G | |
| ENST00000651275.1:c.2421A>G | ENSP00000498926.1:p.Pro807= | |
| ENST00000651781.1:c.1609A>G | ||
| ENST00000651786.1:c.*1901A>G | ENSP00000498364.1:n.*1901A>G | |
| ENST00000652096.1:c.*1934A>G | ENSP00000498896.1:n.*1934A>G | |
| ENST00000366578.5:c.2529A>G | ENSP00000355537.4:p.Pro843= | |
| ENST00000461367.1:n.738A>G | ||
| ENST00000542672.5:c.2529A>G | ENSP00000443495.1:p.Pro843= | |
| ENST00000546208.5:c.1905A>G | ENSP00000438384.2:p.Pro635= | |
| NM_001103.3:c.2529A>G | NP_001094.1:p.Pro843= | |
| NM_001278343.1:c.2529A>G | NP_001265272.1:p.Pro843= | |
| NM_001278344.1:c.1905A>G | NP_001265273.1:p.Pro635= | |
| NM_001278343.2:c.2529A>G | NP_001265272.1:p.Pro843= | |
| NM_001103.4:c.2529A>G MANE Select | NP_001094.1:p.Pro843= | |
| NM_001278344.2:c.1905A>G | NP_001265273.1:p.Pro635= |