ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000426742
0.642
ENST00000265038
0.642
ENST00000543101
0.642
ENST00000536596
0.642
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60890914C>T , CM000667.2:g.60890914C>T | GRCh38 |
| NC_000005.9:g.60186741C>T , CM000667.1:g.60186741C>T | GRCh37 |
| NC_000005.8:g.60222498C>T | NCBI36 |
| NG_009289.1:g.59165G>A , LRG_466:g.59165G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.855+7362G>A | ENSP00000408344.2:n.855+7362G>A | |
| ENST00000647431.2:c.1117G>A | ENSP00000494726.2:n.1117G>A | |
| ENST00000647486.2:c.1287G>A | ENSP00000494466.2:n.1287G>A | |
| ENST00000675042.2:c.842G>A | ENSP00000502082.2:p.Cys281Tyr | |
| ENST00000675452.2:c.*981G>A | ENSP00000506954.1:n.*981G>A | |
| ENST00000682217.1:c.844-3394G>A | ENSP00000507570.1:n.844-3394G>A | |
| ENST00000682375.1:c.*846G>A | ENSP00000507551.1:n.*846G>A | |
| ENST00000683052.1:c.818G>A | ENSP00000507072.1:p.Cys273Tyr | |
| ENST00000683199.1:n.1038G>A | ||
| ENST00000683216.1:n.1285G>A | ||
| ENST00000683460.1:c.*2453G>A | ENSP00000507820.1:n.*2453G>A | |
| ENST00000684453.1:n.2673G>A | ||
| ENST00000684621.1:n.900-3394G>A | ||
| ENST00000265038.10:c.1073G>A | ENSP00000265038.6:p.Cys358Tyr | |
| ENST00000643034.1:c.*908G>A | ENSP00000496080.1:n.*908G>A | |
| ENST00000643708.1:c.*846G>A | ENSP00000494199.1:n.*846G>A | |
| ENST00000647431.1:c.1068G>A | ||
| ENST00000647486.1:c.1238G>A | ||
| ENST00000675378.1:c.1016G>A | ENSP00000502535.1:p.Cys339Tyr | |
| ENST00000675452.1:n.1265G>A | ||
| ENST00000676185.1:c.1016G>A MANE Select | ENSP00000501614.1:p.Cys339Tyr | |
| ENST00000265038.9:c.1016G>A | ENSP00000265038.5:p.Cys339Tyr | |
| ENST00000381118.7:c.*1060G>A | ENSP00000370510.3:n.*1060G>A | |
| ENST00000462279.5:n.2468G>A | ||
| NM_000082.3:c.1016G>A , LRG_466t1:c.1016G>A | NP_000073.1:p.Cys339Tyr | |
| NM_001007233.2:c.842G>A | NP_001007234.1:p.Cys281Tyr | |
| NM_001290285.1:c.557G>A | NP_001277214.1:p.Cys186Tyr | |
| NM_000082.4:c.1016G>A MANE Select | NP_000073.1:p.Cys339Tyr | |
| NM_001007233.3:c.842G>A | NP_001007234.1:p.Cys281Tyr | |
| NM_001290285.2:c.557G>A | NP_001277214.1:p.Cys186Tyr |