Linked Data
ClinVar Variation Id:
2940106
ClinVar RCV Id:
RCV003797464
dbSNP Id:
rs752455947
gnomAD v3:
5-119479040-A-T
gnomAD v4:
5-119479040-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119479040A>T , CM000667.2:g.119479040A>T | GRCh38 |
| NC_000005.9:g.118814735A>T , CM000667.1:g.118814735A>T | GRCh37 |
| NC_000005.8:g.118842634A>T | NCBI36 |
| NG_008182.1:g.31588A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.622+19A>T | ENSP00000426272.2:n.622+19A>T | |
| ENST00000518349.6:c.113-17503A>T | ENSP00000507185.1:n.113-17503A>T | |
| ENST00000682445.1:c.*503+19A>T | ENSP00000508061.1:n.*503+19A>T | |
| ENST00000682531.1:n.723+19A>T | ||
| ENST00000682626.1:c.*128+19A>T | ENSP00000507857.1:n.*128+19A>T | |
| ENST00000682996.1:c.622+19A>T | ENSP00000507792.1:n.622+19A>T | |
| ENST00000683265.1:n.715+19A>T | ||
| ENST00000683371.1:c.*752+19A>T | ENSP00000508376.1:n.*752+19A>T | |
| ENST00000683390.1:n.2312+19A>T | ||
| ENST00000683549.1:n.543+19A>T | ||
| ENST00000683936.1:c.*507+19A>T | ENSP00000507721.1:n.*507+19A>T | |
| ENST00000683974.1:n.704+19A>T | ||
| ENST00000683996.1:c.211+19A>T | ENSP00000507060.1:n.211+19A>T | |
| ENST00000684131.1:n.461+19A>T | ||
| ENST00000684160.1:c.*312+19A>T | ENSP00000507821.1:n.*312+19A>T | |
| ENST00000684214.1:c.622+19A>T | ENSP00000508071.1:n.622+19A>T | |
| ENST00000414835.7:c.697+19A>T | ENSP00000411960.3:n.697+19A>T | |
| ENST00000510025.7:c.622+19A>T MANE Select | ENSP00000424940.3:n.622+19A>T | |
| ENST00000643250.1:c.*494+19A>T | ENSP00000494737.1:n.*494+19A>T | |
| ENST00000644146.1:c.*200+19A>T | ENSP00000494808.1:n.*200+19A>T | |
| ENST00000645099.1:c.181+19A>T | ENSP00000496091.1:n.181+19A>T | |
| ENST00000645702.1:c.211+19A>T | ENSP00000496432.1:n.211+19A>T | |
| ENST00000645832.1:c.*507+19A>T | ENSP00000494316.1:n.*507+19A>T | |
| ENST00000646058.1:c.622+19A>T | ENSP00000493579.1:n.622+19A>T | |
| ENST00000646355.1:c.*628+19A>T | ENSP00000493801.1:n.*628+19A>T | |
| ENST00000646554.1:c.*600+19A>T | ENSP00000494542.1:n.*600+19A>T | |
| ENST00000647335.1:c.*589+19A>T | ENSP00000495180.1:n.*589+19A>T | |
| ENST00000647342.1:c.*553+19A>T | ENSP00000494992.1:n.*553+19A>T | |
| ENST00000256216.10:c.622+19A>T | ENSP00000256216.6:n.622+19A>T | |
| ENST00000414835.6:c.202+19A>T | ENSP00000411960.2:n.202+19A>T | |
| ENST00000442060.7:c.622+19A>T | ENSP00000390208.3:n.622+19A>T | |
| ENST00000504811.5:c.697+19A>T | ENSP00000420914.1:n.697+19A>T | |
| ENST00000505181.5:n.325+19A>T | ||
| ENST00000509514.5:c.-263+19A>T | ENSP00000426272.1:n.-263+19A>T | |
| ENST00000510025.5:c.550+19A>T | ENSP00000424940.1:n.550+19A>T | |
| ENST00000512644.1:n.190+19A>T | ||
| ENST00000513628.5:c.211+19A>T | ENSP00000425993.1:n.211+19A>T | |
| ENST00000515235.6:n.682+19A>T | ||
| ENST00000515320.5:c.568+19A>T | ENSP00000424613.1:n.568+19A>T | |
| NM_000414.3:c.622+19A>T | NP_000405.1:n.622+19A>T | |
| NM_001199291.2:c.697+19A>T | NP_001186220.1:n.697+19A>T | |
| NM_001199292.1:c.568+19A>T | NP_001186221.1:n.568+19A>T | |
| NM_001292027.1:c.550+19A>T | NP_001278956.1:n.550+19A>T | |
| NM_001292028.1:c.202+19A>T | NP_001278957.1:n.202+19A>T | |
| NM_000414.4:c.622+19A>T MANE Select | NP_000405.1:n.622+19A>T | |
| NM_001199291.3:c.697+19A>T | NP_001186220.1:n.697+19A>T | |
| NM_001199292.2:c.568+19A>T | NP_001186221.1:n.568+19A>T | |
| NM_001292027.2:c.550+19A>T | NP_001278956.1:n.550+19A>T | |
| NM_001292028.2:c.202+19A>T | NP_001278957.1:n.202+19A>T | |
| NM_001374497.1:c.613+19A>T | NP_001361426.1:n.613+19A>T | |
| NM_001374498.1:c.622+19A>T | NP_001361427.1:n.622+19A>T | |
| NM_001374499.1:c.295+19A>T | NP_001361428.1:n.295+19A>T | |
| NM_001374500.1:c.181+19A>T | NP_001361429.1:n.181+19A>T | |
| NM_001374501.1:c.211+19A>T | NP_001361430.1:n.211+19A>T | |
| NM_001374502.1:c.211+19A>T | NP_001361431.1:n.211+19A>T | |
| NM_001374503.1:c.211+19A>T | NP_001361432.1:n.211+19A>T | |
| NR_164653.1:n.701+19A>T | ||
| NR_164654.1:n.889+19A>T |