Linked Data
dbSNP Id:
rs545428531
ExAC:
5:131728190 A / G
gnomAD v2:
5-131728190-A-G
gnomAD v3:
5-132392498-A-G
gnomAD v4:
5-132392498-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132392498A>G , CM000667.2:g.132392498A>G | GRCh38 |
| NC_000005.9:g.131728190A>G , CM000667.1:g.131728190A>G | GRCh37 |
| NC_000005.8:g.131756089A>G | NCBI36 |
| NG_008982.1:g.27790A>G | |
| NG_008982.2:g.27795A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1174A>G | ENSP00000388838.2:p.Met392Val | |
| ENST00000435065.7:c.1405A>G | ENSP00000402760.2:p.Met469Val | |
| ENST00000448810.6:c.*185A>G | ENSP00000401860.2:n.*185A>G | |
| ENST00000685543.1:n.1474A>G | ||
| ENST00000686757.1:c.*497A>G | ENSP00000510721.1:n.*497A>G | |
| ENST00000687740.1:n.4018A>G | ||
| ENST00000688151.1:n.2643A>G | ||
| ENST00000689271.1:c.1180A>G | ENSP00000510797.1:p.Met394Val | |
| ENST00000690900.1:c.*497A>G | ENSP00000510703.1:n.*497A>G | |
| ENST00000692212.1:n.4473A>G | ||
| ENST00000692355.1:c.586A>G | ||
| ENST00000692413.1:c.1315A>G | ENSP00000509374.1:p.Met439Val | |
| ENST00000692825.1:c.1401A>G | ENSP00000509447.1:n.1401A>G | |
| ENST00000693308.1:c.1381A>G | ENSP00000509770.1:p.Met461Val | |
| ENST00000693763.1:n.2493A>G | ||
| ENST00000245407.8:c.1333A>G MANE Select | ENSP00000245407.3:p.Met445Val | |
| ENST00000245407.7:c.1333A>G | ENSP00000245407.3:p.Met445Val | |
| ENST00000435065.6:c.1405A>G | ENSP00000402760.2:p.Met469Val | |
| ENST00000447841.5:c.177A>G | ||
| ENST00000448810.5:c.595A>G | ||
| ENST00000461013.5:n.8755A>G | ||
| ENST00000475308.1:n.2011A>G | ||
| ENST00000479605.5:n.436A>G | ||
| NM_001308122.1:c.1405A>G | NP_001295051.1:p.Met469Val | |
| NM_003060.3:c.1333A>G | NP_003051.1:p.Met445Val | |
| XM_011543590.1:c.715A>G | XP_011541892.1:p.Met239Val | |
| XR_948290.1:n.1459A>G | ||
| XM_011543590.2:c.715A>G | XP_011541892.1:p.Met239Val | |
| XM_017009778.2:c.805A>G | XP_016865267.1:p.Met269Val | |
| XR_001742215.1:n.1588A>G | ||
| XR_001742216.1:n.1607A>G | ||
| XR_427718.2:n.1693A>G | ||
| XR_948290.2:n.1459A>G | ||
| XR_948291.2:n.1687A>G | ||
| NM_003060.4:c.1333A>G MANE Select | NP_003051.1:p.Met445Val | |
| NM_001308122.2:c.1405A>G | NP_001295051.1:p.Met469Val |