Linked Data
ClinVar Variation Id:
1364464
ClinVar RCV Id:
RCV001937461
dbSNP Id:
rs765174171
gnomAD v4:
5-119478841-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478841A>G , CM000667.2:g.119478841A>G | GRCh38 |
| NC_000005.9:g.118814536A>G , CM000667.1:g.118814536A>G | GRCh37 |
| NC_000005.8:g.118842435A>G | NCBI36 |
| NG_008182.1:g.31389A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.442A>G | ENSP00000426272.2:p.Met148Val | |
| ENST00000518349.6:c.113-17702A>G | ENSP00000507185.1:n.113-17702A>G | |
| ENST00000682445.1:c.*323A>G | ENSP00000508061.1:n.*323A>G | |
| ENST00000682531.1:n.543A>G | ||
| ENST00000682626.1:c.470A>G | ENSP00000507857.1:p.Tyr157Cys | |
| ENST00000682996.1:c.442A>G | ENSP00000507792.1:p.Met148Val | |
| ENST00000683265.1:n.535A>G | ||
| ENST00000683371.1:c.*572A>G | ENSP00000508376.1:n.*572A>G | |
| ENST00000683390.1:n.2132A>G | ||
| ENST00000683549.1:n.363A>G | ||
| ENST00000683936.1:c.*327A>G | ENSP00000507721.1:n.*327A>G | |
| ENST00000683974.1:n.524A>G | ||
| ENST00000683996.1:c.31A>G | ENSP00000507060.1:p.Met11Val | |
| ENST00000684131.1:n.281A>G | ||
| ENST00000684160.1:c.*132A>G | ENSP00000507821.1:n.*132A>G | |
| ENST00000684214.1:c.442A>G | ENSP00000508071.1:p.Met148Val | |
| ENST00000414835.7:c.517A>G | ENSP00000411960.3:p.Met173Val | |
| ENST00000510025.7:c.442A>G MANE Select | ENSP00000424940.3:p.Met148Val | |
| ENST00000643250.1:c.*314A>G | ENSP00000494737.1:n.*314A>G | |
| ENST00000644146.1:c.*20A>G | ENSP00000494808.1:n.*20A>G | |
| ENST00000645099.1:c.1A>G | ENSP00000496091.1:p.Met1Val | |
| ENST00000645702.1:c.31A>G | ENSP00000496432.1:p.Met11Val | |
| ENST00000645832.1:c.*327A>G | ENSP00000494316.1:n.*327A>G | |
| ENST00000646058.1:c.442A>G | ENSP00000493579.1:p.Met148Val | |
| ENST00000646355.1:c.*448A>G | ENSP00000493801.1:n.*448A>G | |
| ENST00000646554.1:c.*420A>G | ENSP00000494542.1:n.*420A>G | |
| ENST00000646590.1:c.433A>G | ENSP00000494892.1:p.Met145Val | |
| ENST00000647335.1:c.*409A>G | ENSP00000495180.1:n.*409A>G | |
| ENST00000647342.1:c.*373A>G | ENSP00000494992.1:n.*373A>G | |
| ENST00000256216.10:c.442A>G | ENSP00000256216.6:p.Met148Val | |
| ENST00000414835.6:c.22A>G | ENSP00000411960.2:p.Met8Val | |
| ENST00000442060.7:c.442A>G | ENSP00000390208.3:p.Met148Val | |
| ENST00000503168.5:n.431A>G | ||
| ENST00000504811.5:c.517A>G | ENSP00000420914.1:p.Met173Val | |
| ENST00000505181.5:n.145A>G | ||
| ENST00000508788.5:n.344A>G | ||
| ENST00000509514.5:c.-443A>G | ENSP00000426272.1:n.-443A>G | |
| ENST00000510025.5:c.370A>G | ENSP00000424940.1:p.Met124Val | |
| ENST00000512644.1:n.10A>G | ||
| ENST00000512841.5:n.490A>G | ||
| ENST00000513628.5:c.31A>G | ENSP00000425993.1:p.Met11Val | |
| ENST00000515235.6:n.502A>G | ||
| ENST00000515320.5:c.388A>G | ENSP00000424613.1:p.Met130Val | |
| NM_000414.3:c.442A>G | NP_000405.1:p.Met148Val | |
| NM_001199291.2:c.517A>G | NP_001186220.1:p.Met173Val | |
| NM_001199292.1:c.388A>G | NP_001186221.1:p.Met130Val | |
| NM_001292027.1:c.370A>G | NP_001278956.1:p.Met124Val | |
| NM_001292028.1:c.22A>G | NP_001278957.1:p.Met8Val | |
| NM_000414.4:c.442A>G MANE Select | NP_000405.1:p.Met148Val | |
| NM_001199291.3:c.517A>G | NP_001186220.1:p.Met173Val | |
| NM_001199292.2:c.388A>G | NP_001186221.1:p.Met130Val | |
| NM_001292027.2:c.370A>G | NP_001278956.1:p.Met124Val | |
| NM_001292028.2:c.22A>G | NP_001278957.1:p.Met8Val | |
| NM_001374497.1:c.433A>G | NP_001361426.1:p.Met145Val | |
| NM_001374498.1:c.442A>G | NP_001361427.1:p.Met148Val | |
| NM_001374499.1:c.115A>G | NP_001361428.1:p.Met39Val | |
| NM_001374500.1:c.1A>G | NP_001361429.1:p.Met1Val | |
| NM_001374501.1:c.31A>G | NP_001361430.1:p.Met11Val | |
| NM_001374502.1:c.31A>G | NP_001361431.1:p.Met11Val | |
| NM_001374503.1:c.31A>G | NP_001361432.1:p.Met11Val | |
| NR_164653.1:n.521A>G | ||
| NR_164654.1:n.709A>G |