Linked Data
ClinVar Variation Id:
7656
dbSNP Id:
rs137853097
ExAC:
5:118844871 A / T
gnomAD v2:
5-118844871-A-T
gnomAD v3:
5-119509176-A-T
gnomAD v4:
5-119509176-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119509176A>T , CM000667.2:g.119509176A>T | GRCh38 |
| NC_000005.9:g.118844871A>T , CM000667.1:g.118844871A>T | GRCh37 |
| NC_000005.8:g.118872770A>T | NCBI36 |
| NG_008182.1:g.61724A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1334-34A>T | ENSP00000426272.2:n.1334-34A>T | |
| ENST00000518349.6:c.613A>T | ENSP00000507185.1:p.Asn205Tyr | |
| ENST00000682445.1:c.*1250A>T | ENSP00000508061.1:n.*1250A>T | |
| ENST00000682531.1:n.3261A>T | ||
| ENST00000682626.1:c.*875A>T | ENSP00000507857.1:n.*875A>T | |
| ENST00000682996.1:c.1297A>T | ENSP00000507792.1:p.Asn433Tyr | |
| ENST00000683265.1:n.3155A>T | ||
| ENST00000683371.1:c.*1499A>T | ENSP00000508376.1:n.*1499A>T | |
| ENST00000683372.1:n.3379A>T | ||
| ENST00000683390.1:n.3059A>T | ||
| ENST00000683549.1:n.2983A>T | ||
| ENST00000683936.1:c.*2947A>T | ENSP00000507721.1:n.*2947A>T | |
| ENST00000683974.1:n.3144A>T | ||
| ENST00000683996.1:c.*579A>T | ENSP00000507060.1:n.*579A>T | |
| ENST00000684131.1:n.2901A>T | ||
| ENST00000684160.1:c.*1059A>T | ENSP00000507821.1:n.*1059A>T | |
| ENST00000684214.1:c.1369A>T | ENSP00000508071.1:p.Asn457Tyr | |
| ENST00000414835.7:c.1444A>T | ENSP00000411960.3:p.Asn482Tyr | |
| ENST00000510025.7:c.1369A>T MANE Select | ENSP00000424940.3:p.Asn457Tyr | |
| ENST00000643250.1:c.*1241A>T | ENSP00000494737.1:n.*1241A>T | |
| ENST00000644146.1:c.*2640A>T | ENSP00000494808.1:n.*2640A>T | |
| ENST00000645099.1:c.928A>T | ENSP00000496091.1:p.Asn310Tyr | |
| ENST00000645702.1:c.*772A>T | ENSP00000496432.1:n.*772A>T | |
| ENST00000645832.1:c.*1254A>T | ENSP00000494316.1:n.*1254A>T | |
| ENST00000646058.1:c.1369A>T | ENSP00000493579.1:p.Asn457Tyr | |
| ENST00000646355.1:c.*1375A>T | ENSP00000493801.1:n.*1375A>T | |
| ENST00000646554.1:c.*1347A>T | ENSP00000494542.1:n.*1347A>T | |
| ENST00000647335.1:c.*1336A>T | ENSP00000495180.1:n.*1336A>T | |
| ENST00000647342.1:c.*1300A>T | ENSP00000494992.1:n.*1300A>T | |
| ENST00000256216.10:c.1369A>T | ENSP00000256216.6:p.Asn457Tyr | |
| ENST00000414835.6:c.949A>T | ENSP00000411960.2:p.Asn317Tyr | |
| ENST00000442060.7:c.1369A>T | ENSP00000390208.3:p.Asn457Tyr | |
| ENST00000504811.5:c.1444A>T | ENSP00000420914.1:p.Asn482Tyr | |
| ENST00000509514.5:c.583A>T | ENSP00000426272.1:p.Asn195Tyr | |
| ENST00000510025.5:c.1297A>T | ENSP00000424940.1:p.Asn433Tyr | |
| ENST00000513628.5:c.958A>T | ENSP00000425993.1:p.Asn320Tyr | |
| ENST00000515235.6:n.3122A>T | ||
| ENST00000515320.5:c.1315A>T | ENSP00000424613.1:p.Asn439Tyr | |
| ENST00000518349.5:n.503A>T | ||
| ENST00000520244.5:n.152A>T | ||
| ENST00000522415.5:n.36A>T | ||
| NM_000414.3:c.1369A>T | NP_000405.1:p.Asn457Tyr | |
| NM_001199291.2:c.1444A>T | NP_001186220.1:p.Asn482Tyr | |
| NM_001199292.1:c.1315A>T | NP_001186221.1:p.Asn439Tyr | |
| NM_001292027.1:c.1297A>T | NP_001278956.1:p.Asn433Tyr | |
| NM_001292028.1:c.949A>T | NP_001278957.1:p.Asn317Tyr | |
| NM_000414.4:c.1369A>T MANE Select | NP_000405.1:p.Asn457Tyr | |
| NM_001199291.3:c.1444A>T | NP_001186220.1:p.Asn482Tyr | |
| NM_001199292.2:c.1315A>T | NP_001186221.1:p.Asn439Tyr | |
| NM_001292027.2:c.1297A>T | NP_001278956.1:p.Asn433Tyr | |
| NM_001292028.2:c.949A>T | NP_001278957.1:p.Asn317Tyr | |
| NM_001374497.1:c.1360A>T | NP_001361426.1:p.Asn454Tyr | |
| NM_001374498.1:c.1297A>T | NP_001361427.1:p.Asn433Tyr | |
| NM_001374499.1:c.1042A>T | NP_001361428.1:p.Asn348Tyr | |
| NM_001374500.1:c.928A>T | NP_001361429.1:p.Asn310Tyr | |
| NM_001374501.1:c.958A>T | NP_001361430.1:p.Asn320Tyr | |
| NM_001374502.1:c.958A>T | NP_001361431.1:p.Asn320Tyr | |
| NM_001374503.1:c.958A>T | NP_001361432.1:p.Asn320Tyr | |
| NR_164653.1:n.1466A>T | ||
| NR_164654.1:n.1734A>T |