Linked Data
ClinVar Variation Id:
460395
dbSNP Id:
rs139775414
ExAC:
5:131726578 A / G
gnomAD v2:
5-131726578-A-G
gnomAD v3:
5-132390886-A-G
gnomAD v4:
5-132390886-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390886A>G , CM000667.2:g.132390886A>G | GRCh38 |
| NC_000005.9:g.131726578A>G , CM000667.1:g.131726578A>G | GRCh37 |
| NC_000005.8:g.131754477A>G | NCBI36 |
| NG_008982.1:g.26178A>G | |
| NG_008982.2:g.26183A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1090A>G | ENSP00000388838.2:p.Met364Val | |
| ENST00000435065.7:c.1321A>G | ENSP00000402760.2:p.Met441Val | |
| ENST00000448810.6:c.*101A>G | ENSP00000401860.2:n.*101A>G | |
| ENST00000685543.1:n.1390A>G | ||
| ENST00000686757.1:c.*413A>G | ENSP00000510721.1:n.*413A>G | |
| ENST00000687740.1:n.3934A>G | ||
| ENST00000688151.1:n.2559A>G | ||
| ENST00000689271.1:c.1096A>G | ENSP00000510797.1:p.Met366Val | |
| ENST00000690900.1:c.*413A>G | ENSP00000510703.1:n.*413A>G | |
| ENST00000692212.1:n.2861A>G | ||
| ENST00000692355.1:c.502A>G | ||
| ENST00000692413.1:c.1231A>G | ENSP00000509374.1:p.Met411Val | |
| ENST00000692825.1:c.1317A>G | ENSP00000509447.1:n.1317A>G | |
| ENST00000693308.1:c.1297A>G | ENSP00000509770.1:p.Met433Val | |
| ENST00000693763.1:n.2409A>G | ||
| ENST00000245407.8:c.1249A>G MANE Select | ENSP00000245407.3:p.Met417Val | |
| ENST00000245407.7:c.1249A>G | ENSP00000245407.3:p.Met417Val | |
| ENST00000435065.6:c.1321A>G | ENSP00000402760.2:p.Met441Val | |
| ENST00000447841.5:c.112-1547A>G | ||
| ENST00000448810.5:c.511A>G | ||
| ENST00000461013.5:n.8671A>G | ||
| ENST00000475308.1:n.1927A>G | ||
| ENST00000479605.5:n.352A>G | ||
| NM_001308122.1:c.1321A>G | NP_001295051.1:p.Met441Val | |
| NM_003060.3:c.1249A>G | NP_003051.1:p.Met417Val | |
| XM_011543590.1:c.631A>G | XP_011541892.1:p.Met211Val | |
| XR_427718.1:n.1609A>G | ||
| XR_948290.1:n.1394-1547A>G | ||
| XR_948291.1:n.1603A>G | ||
| XM_011543590.2:c.631A>G | XP_011541892.1:p.Met211Val | |
| XM_017009778.2:c.721A>G | XP_016865267.1:p.Met241Val | |
| XR_001742215.1:n.1504A>G | ||
| XR_001742216.1:n.1523A>G | ||
| XR_427718.2:n.1609A>G | ||
| XR_948290.2:n.1394-1547A>G | ||
| XR_948291.2:n.1603A>G | ||
| NM_003060.4:c.1249A>G MANE Select | NP_003051.1:p.Met417Val | |
| NM_001308122.2:c.1321A>G | NP_001295051.1:p.Met441Val |