Linked Data
ClinVar Variation Id:
2061897
ClinVar RCV Id:
RCV002953026
dbSNP Id:
rs2066436154
gnomAD v4:
11-6617282-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617282T>A , CM000673.2:g.6617282T>A | GRCh38 |
| NC_000011.9:g.6638513T>A , CM000673.1:g.6638513T>A | GRCh37 |
| NC_000011.8:g.6595089T>A | NCBI36 |
| NG_008653.1:g.7180A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.394+19A>T | ENSP00000507321.1:n.394+19A>T | |
| ENST00000299427.12:c.508+19A>T MANE Select | ENSP00000299427.6:n.508+19A>T | |
| ENST00000428886.7:n.615A>T | ||
| ENST00000436873.7:c.312+19A>T | ||
| ENST00000524788.2:n.1539A>T | ||
| ENST00000524903.2:n.1655A>T | ||
| ENST00000528571.6:c.*267A>T | ENSP00000434647.1:n.*267A>T | |
| ENST00000528807.2:n.164+19A>T | ||
| ENST00000530040.2:n.479+77A>T | ||
| ENST00000533371.6:c.-222+19A>T | ENSP00000437066.1:n.-222+19A>T | |
| ENST00000534644.6:n.456+72A>T | ||
| ENST00000642892.1:c.-222+72A>T | ENSP00000494165.1:n.-222+72A>T | |
| ENST00000643439.1:c.*248+19A>T | ENSP00000495849.1:n.*248+19A>T | |
| ENST00000643479.1:n.537+19A>T | ||
| ENST00000643516.1:c.395+19A>T | ||
| ENST00000644151.1:n.1819A>T | ||
| ENST00000644218.1:c.508+19A>T | ENSP00000493574.1:n.508+19A>T | |
| ENST00000644683.1:c.450+77A>T | ENSP00000494085.1:n.450+77A>T | |
| ENST00000644810.1:c.230-129A>T | ENSP00000495895.1:n.230-129A>T | |
| ENST00000644831.1:n.556A>T | ||
| ENST00000644933.1:c.-222+19A>T | ENSP00000496133.1:n.-222+19A>T | |
| ENST00000645020.1:n.1555A>T | ||
| ENST00000645285.1:c.-222+19A>T | ENSP00000495058.1:n.-222+19A>T | |
| ENST00000645331.1:n.746A>T | ||
| ENST00000645620.1:c.-222+77A>T | ENSP00000493657.1:n.-222+77A>T | |
| ENST00000646777.1:n.556A>T | ||
| ENST00000647016.1:n.860A>T | ||
| ENST00000647152.1:c.-222+19A>T | ENSP00000495893.1:n.-222+19A>T | |
| ENST00000647209.1:c.*377+19A>T | ENSP00000495558.1:n.*377+19A>T | |
| ENST00000647346.1:n.1528+19A>T | ||
| ENST00000299427.10:c.508+19A>T | ENSP00000299427.6:n.508+19A>T | |
| ENST00000428886.6:n.549A>T | ||
| ENST00000436873.6:c.450+77A>T | ENSP00000398136.2:n.450+77A>T | |
| ENST00000524788.1:n.80A>T | ||
| ENST00000528571.5:c.*248+19A>T | ENSP00000434647.1:n.*248+19A>T | |
| ENST00000533371.5:c.-222+19A>T | ENSP00000437066.1:n.-222+19A>T | |
| ENST00000534644.5:n.493+19A>T | ||
| ENST00000611494.4:c.508+19A>T | ENSP00000484546.1:n.508+19A>T | |
| NM_000391.3:c.508+19A>T | NP_000382.3:n.508+19A>T | |
| NM_000391.4:c.508+19A>T MANE Select | NP_000382.3:n.508+19A>T |