Linked Data
dbSNP Id:
rs1226630841
gnomAD v3:
5-119478926-A-C
gnomAD v4:
5-119478926-A-C
COSMIC:
COSM4840068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478926A>C , CM000667.2:g.119478926A>C | GRCh38 |
| NC_000005.9:g.118814621A>C , CM000667.1:g.118814621A>C | GRCh37 |
| NC_000005.8:g.118842520A>C | NCBI36 |
| NG_008182.1:g.31474A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.527A>C | ENSP00000426272.2:p.Asn176Thr | |
| ENST00000518349.6:c.113-17617A>C | ENSP00000507185.1:n.113-17617A>C | |
| ENST00000682445.1:c.*408A>C | ENSP00000508061.1:n.*408A>C | |
| ENST00000682531.1:n.628A>C | ||
| ENST00000682626.1:c.*33A>C | ENSP00000507857.1:n.*33A>C | |
| ENST00000682996.1:c.527A>C | ENSP00000507792.1:p.Asn176Thr | |
| ENST00000683265.1:n.620A>C | ||
| ENST00000683371.1:c.*657A>C | ENSP00000508376.1:n.*657A>C | |
| ENST00000683390.1:n.2217A>C | ||
| ENST00000683549.1:n.448A>C | ||
| ENST00000683936.1:c.*412A>C | ENSP00000507721.1:n.*412A>C | |
| ENST00000683974.1:n.609A>C | ||
| ENST00000683996.1:c.116A>C | ENSP00000507060.1:p.Asn39Thr | |
| ENST00000684131.1:n.366A>C | ||
| ENST00000684160.1:c.*217A>C | ENSP00000507821.1:n.*217A>C | |
| ENST00000684214.1:c.527A>C | ENSP00000508071.1:p.Asn176Thr | |
| ENST00000414835.7:c.602A>C | ENSP00000411960.3:p.Asn201Thr | |
| ENST00000510025.7:c.527A>C MANE Select | ENSP00000424940.3:p.Asn176Thr | |
| ENST00000643250.1:c.*399A>C | ENSP00000494737.1:n.*399A>C | |
| ENST00000644146.1:c.*105A>C | ENSP00000494808.1:n.*105A>C | |
| ENST00000645099.1:c.86A>C | ENSP00000496091.1:p.Asn29Thr | |
| ENST00000645702.1:c.116A>C | ENSP00000496432.1:p.Asn39Thr | |
| ENST00000645832.1:c.*412A>C | ENSP00000494316.1:n.*412A>C | |
| ENST00000646058.1:c.527A>C | ENSP00000493579.1:p.Asn176Thr | |
| ENST00000646355.1:c.*533A>C | ENSP00000493801.1:n.*533A>C | |
| ENST00000646554.1:c.*505A>C | ENSP00000494542.1:n.*505A>C | |
| ENST00000647335.1:c.*494A>C | ENSP00000495180.1:n.*494A>C | |
| ENST00000647342.1:c.*458A>C | ENSP00000494992.1:n.*458A>C | |
| ENST00000256216.10:c.527A>C | ENSP00000256216.6:p.Asn176Thr | |
| ENST00000414835.6:c.107A>C | ENSP00000411960.2:p.Asn36Thr | |
| ENST00000442060.7:c.527A>C | ENSP00000390208.3:p.Asn176Thr | |
| ENST00000503168.5:n.516A>C | ||
| ENST00000504811.5:c.602A>C | ENSP00000420914.1:p.Asn201Thr | |
| ENST00000505181.5:n.230A>C | ||
| ENST00000508788.5:n.429A>C | ||
| ENST00000509514.5:c.-358A>C | ENSP00000426272.1:n.-358A>C | |
| ENST00000510025.5:c.455A>C | ENSP00000424940.1:p.Asn152Thr | |
| ENST00000512644.1:n.95A>C | ||
| ENST00000512841.5:n.575A>C | ||
| ENST00000513628.5:c.116A>C | ENSP00000425993.1:p.Asn39Thr | |
| ENST00000515235.6:n.587A>C | ||
| ENST00000515320.5:c.473A>C | ENSP00000424613.1:p.Asn158Thr | |
| NM_000414.3:c.527A>C | NP_000405.1:p.Asn176Thr | |
| NM_001199291.2:c.602A>C | NP_001186220.1:p.Asn201Thr | |
| NM_001199292.1:c.473A>C | NP_001186221.1:p.Asn158Thr | |
| NM_001292027.1:c.455A>C | NP_001278956.1:p.Asn152Thr | |
| NM_001292028.1:c.107A>C | NP_001278957.1:p.Asn36Thr | |
| NM_000414.4:c.527A>C MANE Select | NP_000405.1:p.Asn176Thr | |
| NM_001199291.3:c.602A>C | NP_001186220.1:p.Asn201Thr | |
| NM_001199292.2:c.473A>C | NP_001186221.1:p.Asn158Thr | |
| NM_001292027.2:c.455A>C | NP_001278956.1:p.Asn152Thr | |
| NM_001292028.2:c.107A>C | NP_001278957.1:p.Asn36Thr | |
| NM_001374497.1:c.518A>C | NP_001361426.1:p.Asn173Thr | |
| NM_001374498.1:c.527A>C | NP_001361427.1:p.Asn176Thr | |
| NM_001374499.1:c.200A>C | NP_001361428.1:p.Asn67Thr | |
| NM_001374500.1:c.86A>C | NP_001361429.1:p.Asn29Thr | |
| NM_001374501.1:c.116A>C | NP_001361430.1:p.Asn39Thr | |
| NM_001374502.1:c.116A>C | NP_001361431.1:p.Asn39Thr | |
| NM_001374503.1:c.116A>C | NP_001361432.1:p.Asn39Thr | |
| NR_164653.1:n.606A>C | ||
| NR_164654.1:n.794A>C |