Linked Data
dbSNP Id:
rs772544048
ExAC:
11:6638518 C / A
gnomAD v2:
11-6638518-C-A
gnomAD v4:
11-6617287-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617287C>A , CM000673.2:g.6617287C>A | GRCh38 |
| NC_000011.9:g.6638518C>A , CM000673.1:g.6638518C>A | GRCh37 |
| NC_000011.8:g.6595094C>A | NCBI36 |
| NG_008653.1:g.7175G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.394+14G>T | ENSP00000507321.1:n.394+14G>T | |
| ENST00000299427.12:c.508+14G>T MANE Select | ENSP00000299427.6:n.508+14G>T | |
| ENST00000428886.7:n.610G>T | ||
| ENST00000436873.7:c.312+14G>T | ||
| ENST00000524788.2:n.1534G>T | ||
| ENST00000524903.2:n.1650G>T | ||
| ENST00000528571.6:c.*262G>T | ENSP00000434647.1:n.*262G>T | |
| ENST00000528807.2:n.164+14G>T | ||
| ENST00000530040.2:n.479+72G>T | ||
| ENST00000533371.6:c.-222+14G>T | ENSP00000437066.1:n.-222+14G>T | |
| ENST00000534644.6:n.456+67G>T | ||
| ENST00000642892.1:c.-222+67G>T | ENSP00000494165.1:n.-222+67G>T | |
| ENST00000643439.1:c.*248+14G>T | ENSP00000495849.1:n.*248+14G>T | |
| ENST00000643479.1:n.537+14G>T | ||
| ENST00000643516.1:c.395+14G>T | ||
| ENST00000644151.1:n.1814G>T | ||
| ENST00000644218.1:c.508+14G>T | ENSP00000493574.1:n.508+14G>T | |
| ENST00000644683.1:c.450+72G>T | ENSP00000494085.1:n.450+72G>T | |
| ENST00000644810.1:c.230-134G>T | ENSP00000495895.1:n.230-134G>T | |
| ENST00000644831.1:n.551G>T | ||
| ENST00000644933.1:c.-222+14G>T | ENSP00000496133.1:n.-222+14G>T | |
| ENST00000645020.1:n.1550G>T | ||
| ENST00000645285.1:c.-222+14G>T | ENSP00000495058.1:n.-222+14G>T | |
| ENST00000645331.1:n.741G>T | ||
| ENST00000645620.1:c.-222+72G>T | ENSP00000493657.1:n.-222+72G>T | |
| ENST00000646777.1:n.551G>T | ||
| ENST00000647016.1:n.855G>T | ||
| ENST00000647152.1:c.-222+14G>T | ENSP00000495893.1:n.-222+14G>T | |
| ENST00000647209.1:c.*377+14G>T | ENSP00000495558.1:n.*377+14G>T | |
| ENST00000647346.1:n.1528+14G>T | ||
| ENST00000299427.10:c.508+14G>T | ENSP00000299427.6:n.508+14G>T | |
| ENST00000428886.6:n.544G>T | ||
| ENST00000436873.6:c.450+72G>T | ENSP00000398136.2:n.450+72G>T | |
| ENST00000524788.1:n.75G>T | ||
| ENST00000528571.5:c.*248+14G>T | ENSP00000434647.1:n.*248+14G>T | |
| ENST00000533371.5:c.-222+14G>T | ENSP00000437066.1:n.-222+14G>T | |
| ENST00000534644.5:n.493+14G>T | ||
| ENST00000611494.4:c.508+14G>T | ENSP00000484546.1:n.508+14G>T | |
| NM_000391.3:c.508+14G>T | NP_000382.3:n.508+14G>T | |
| NM_000391.4:c.508+14G>T MANE Select | NP_000382.3:n.508+14G>T |