Linked Data
ClinVar Variation Id:
1359944
ClinVar RCV Id:
RCV001872381
dbSNP Id:
rs1417574754
gnomAD v2:
5-131729427-A-G
gnomAD v3:
5-132393735-A-G
gnomAD v4:
5-132393735-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393735A>G , CM000667.2:g.132393735A>G | GRCh38 |
| NC_000005.9:g.131729427A>G , CM000667.1:g.131729427A>G | GRCh37 |
| NC_000005.8:g.131757326A>G | NCBI36 |
| NG_008982.1:g.29027A>G | |
| NG_008982.2:g.29032A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-450A>G | ENSP00000388838.2:n.1292-450A>G | |
| ENST00000435065.7:c.1582A>G | ENSP00000402760.2:p.Ile528Val | |
| ENST00000448810.6:c.*362A>G | ENSP00000401860.2:n.*362A>G | |
| ENST00000685543.1:n.1651A>G | ||
| ENST00000686757.1:c.*674A>G | ENSP00000510721.1:n.*674A>G | |
| ENST00000686868.1:n.502A>G | ||
| ENST00000687740.1:n.4195A>G | ||
| ENST00000688151.1:n.2820A>G | ||
| ENST00000689271.1:c.1357A>G | ENSP00000510797.1:p.Ile453Val | |
| ENST00000690900.1:c.*674A>G | ENSP00000510703.1:n.*674A>G | |
| ENST00000692212.1:n.4650A>G | ||
| ENST00000692355.1:c.763A>G | ||
| ENST00000692413.1:c.1492A>G | ENSP00000509374.1:p.Ile498Val | |
| ENST00000692825.1:c.1578A>G | ENSP00000509447.1:n.1578A>G | |
| ENST00000693308.1:c.1558A>G | ENSP00000509770.1:p.Ile520Val | |
| ENST00000693763.1:n.2670A>G | ||
| ENST00000245407.8:c.1510A>G MANE Select | ENSP00000245407.3:p.Ile504Val | |
| ENST00000245407.7:c.1510A>G | ENSP00000245407.3:p.Ile504Val | |
| ENST00000435065.6:c.1582A>G | ENSP00000402760.2:p.Ile528Val | |
| ENST00000447841.5:c.354A>G | ||
| ENST00000448810.5:c.772A>G | ||
| ENST00000461013.5:n.8932A>G | ||
| ENST00000475308.1:n.2188A>G | ||
| NM_001308122.1:c.1582A>G | NP_001295051.1:p.Ile528Val | |
| NM_003060.3:c.1510A>G | NP_003051.1:p.Ile504Val | |
| XM_011543590.1:c.892A>G | XP_011541892.1:p.Ile298Val | |
| XR_948290.1:n.1636A>G | ||
| XM_011543590.2:c.892A>G | XP_011541892.1:p.Ile298Val | |
| XM_017009778.2:c.982A>G | XP_016865267.1:p.Ile328Val | |
| XR_001742215.1:n.1765A>G | ||
| XR_001742216.1:n.1784A>G | ||
| XR_427718.2:n.1870A>G | ||
| XR_948290.2:n.1636A>G | ||
| XR_948291.2:n.1864A>G | ||
| NM_003060.4:c.1510A>G MANE Select | NP_003051.1:p.Ile504Val | |
| NM_001308122.2:c.1582A>G | NP_001295051.1:p.Ile528Val |