Linked Data
ClinVar Variation Id:
1353033
ClinVar RCV Id:
RCV002049617
dbSNP Id:
rs753461448
ExAC:
5:131726445 C / G
gnomAD v2:
5-131726445-C-G
gnomAD v4:
5-132390753-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390753C>G , CM000667.2:g.132390753C>G | GRCh38 |
| NC_000005.9:g.131726445C>G , CM000667.1:g.131726445C>G | GRCh37 |
| NC_000005.8:g.131754344C>G | NCBI36 |
| NG_008982.1:g.26045C>G | |
| NG_008982.2:g.26050C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.957C>G | ENSP00000388838.2:p.Ile319Met | |
| ENST00000435065.7:c.1188C>G | ENSP00000402760.2:p.Ile396Met | |
| ENST00000448810.6:c.1053-23C>G | ENSP00000401860.2:n.1053-23C>G | |
| ENST00000685543.1:n.1257C>G | ||
| ENST00000686757.1:c.*280C>G | ENSP00000510721.1:n.*280C>G | |
| ENST00000687740.1:n.3801C>G | ||
| ENST00000688151.1:n.2426C>G | ||
| ENST00000689271.1:c.963C>G | ENSP00000510797.1:p.Ile321Met | |
| ENST00000690900.1:c.*280C>G | ENSP00000510703.1:n.*280C>G | |
| ENST00000692212.1:n.2728C>G | ||
| ENST00000692355.1:c.369C>G | ||
| ENST00000692413.1:c.1098C>G | ENSP00000509374.1:p.Ile366Met | |
| ENST00000692825.1:c.1184C>G | ENSP00000509447.1:n.1184C>G | |
| ENST00000693308.1:c.1164C>G | ENSP00000509770.1:p.Ile388Met | |
| ENST00000693763.1:n.2276C>G | ||
| ENST00000245407.8:c.1116C>G MANE Select | ENSP00000245407.3:p.Ile372Met | |
| ENST00000245407.7:c.1116C>G | ENSP00000245407.3:p.Ile372Met | |
| ENST00000435065.6:c.1188C>G | ENSP00000402760.2:p.Ile396Met | |
| ENST00000447841.5:c.112-1680C>G | ||
| ENST00000448810.5:c.401-23C>G | ||
| ENST00000461013.5:n.8538C>G | ||
| ENST00000475308.1:n.1794C>G | ||
| ENST00000479605.5:n.219C>G | ||
| NM_001308122.1:c.1188C>G | NP_001295051.1:p.Ile396Met | |
| NM_003060.3:c.1116C>G | NP_003051.1:p.Ile372Met | |
| XM_011543590.1:c.498C>G | XP_011541892.1:p.Ile166Met | |
| XR_427718.1:n.1476C>G | ||
| XR_948290.1:n.1394-1680C>G | ||
| XR_948291.1:n.1470C>G | ||
| XM_011543590.2:c.498C>G | XP_011541892.1:p.Ile166Met | |
| XM_017009778.2:c.588C>G | XP_016865267.1:p.Ile196Met | |
| XR_001742215.1:n.1394-23C>G | ||
| XR_001742216.1:n.1413-23C>G | ||
| XR_427718.2:n.1476C>G | ||
| XR_948290.2:n.1394-1680C>G | ||
| XR_948291.2:n.1470C>G | ||
| NM_003060.4:c.1116C>G MANE Select | NP_003051.1:p.Ile372Met | |
| NM_001308122.2:c.1188C>G | NP_001295051.1:p.Ile396Met |