Linked Data
dbSNP Id:
rs1405401069
gnomAD v2:
5-118814704-G-A
gnomAD v3:
5-119479009-G-A
gnomAD v4:
5-119479009-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119479009G>A , CM000667.2:g.119479009G>A | GRCh38 |
| NC_000005.9:g.118814704G>A , CM000667.1:g.118814704G>A | GRCh37 |
| NC_000005.8:g.118842603G>A | NCBI36 |
| NG_008182.1:g.31557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.610G>A | ENSP00000426272.2:p.Val204Ile | |
| ENST00000518349.6:c.113-17534G>A | ENSP00000507185.1:n.113-17534G>A | |
| ENST00000682445.1:c.*491G>A | ENSP00000508061.1:n.*491G>A | |
| ENST00000682531.1:n.711G>A | ||
| ENST00000682626.1:c.*116G>A | ENSP00000507857.1:n.*116G>A | |
| ENST00000682996.1:c.610G>A | ENSP00000507792.1:p.Val204Ile | |
| ENST00000683265.1:n.703G>A | ||
| ENST00000683371.1:c.*740G>A | ENSP00000508376.1:n.*740G>A | |
| ENST00000683390.1:n.2300G>A | ||
| ENST00000683549.1:n.531G>A | ||
| ENST00000683936.1:c.*495G>A | ENSP00000507721.1:n.*495G>A | |
| ENST00000683974.1:n.692G>A | ||
| ENST00000683996.1:c.199G>A | ENSP00000507060.1:p.Val67Ile | |
| ENST00000684131.1:n.449G>A | ||
| ENST00000684160.1:c.*300G>A | ENSP00000507821.1:n.*300G>A | |
| ENST00000684214.1:c.610G>A | ENSP00000508071.1:p.Val204Ile | |
| ENST00000414835.7:c.685G>A | ENSP00000411960.3:p.Val229Ile | |
| ENST00000510025.7:c.610G>A MANE Select | ENSP00000424940.3:p.Val204Ile | |
| ENST00000643250.1:c.*482G>A | ENSP00000494737.1:n.*482G>A | |
| ENST00000644146.1:c.*188G>A | ENSP00000494808.1:n.*188G>A | |
| ENST00000645099.1:c.169G>A | ENSP00000496091.1:p.Val57Ile | |
| ENST00000645702.1:c.199G>A | ENSP00000496432.1:p.Val67Ile | |
| ENST00000645832.1:c.*495G>A | ENSP00000494316.1:n.*495G>A | |
| ENST00000646058.1:c.610G>A | ENSP00000493579.1:p.Val204Ile | |
| ENST00000646355.1:c.*616G>A | ENSP00000493801.1:n.*616G>A | |
| ENST00000646554.1:c.*588G>A | ENSP00000494542.1:n.*588G>A | |
| ENST00000647335.1:c.*577G>A | ENSP00000495180.1:n.*577G>A | |
| ENST00000647342.1:c.*541G>A | ENSP00000494992.1:n.*541G>A | |
| ENST00000256216.10:c.610G>A | ENSP00000256216.6:p.Val204Ile | |
| ENST00000414835.6:c.190G>A | ENSP00000411960.2:p.Val64Ile | |
| ENST00000442060.7:c.610G>A | ENSP00000390208.3:p.Val204Ile | |
| ENST00000504811.5:c.685G>A | ENSP00000420914.1:p.Val229Ile | |
| ENST00000505181.5:n.313G>A | ||
| ENST00000509514.5:c.-275G>A | ENSP00000426272.1:n.-275G>A | |
| ENST00000510025.5:c.538G>A | ENSP00000424940.1:p.Val180Ile | |
| ENST00000512644.1:n.178G>A | ||
| ENST00000513628.5:c.199G>A | ENSP00000425993.1:p.Val67Ile | |
| ENST00000515235.6:n.670G>A | ||
| ENST00000515320.5:c.556G>A | ENSP00000424613.1:p.Val186Ile | |
| NM_000414.3:c.610G>A | NP_000405.1:p.Val204Ile | |
| NM_001199291.2:c.685G>A | NP_001186220.1:p.Val229Ile | |
| NM_001199292.1:c.556G>A | NP_001186221.1:p.Val186Ile | |
| NM_001292027.1:c.538G>A | NP_001278956.1:p.Val180Ile | |
| NM_001292028.1:c.190G>A | NP_001278957.1:p.Val64Ile | |
| NM_000414.4:c.610G>A MANE Select | NP_000405.1:p.Val204Ile | |
| NM_001199291.3:c.685G>A | NP_001186220.1:p.Val229Ile | |
| NM_001199292.2:c.556G>A | NP_001186221.1:p.Val186Ile | |
| NM_001292027.2:c.538G>A | NP_001278956.1:p.Val180Ile | |
| NM_001292028.2:c.190G>A | NP_001278957.1:p.Val64Ile | |
| NM_001374497.1:c.601G>A | NP_001361426.1:p.Val201Ile | |
| NM_001374498.1:c.610G>A | NP_001361427.1:p.Val204Ile | |
| NM_001374499.1:c.283G>A | NP_001361428.1:p.Val95Ile | |
| NM_001374500.1:c.169G>A | NP_001361429.1:p.Val57Ile | |
| NM_001374501.1:c.199G>A | NP_001361430.1:p.Val67Ile | |
| NM_001374502.1:c.199G>A | NP_001361431.1:p.Val67Ile | |
| NM_001374503.1:c.199G>A | NP_001361432.1:p.Val67Ile | |
| NR_164653.1:n.689G>A | ||
| NR_164654.1:n.877G>A |