Linked Data
ClinVar Variation Id:
1127574
ClinVar RCV Id:
RCV001460052
dbSNP Id:
rs2134595308
gnomAD v4:
11-6617166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617166G>A , CM000673.2:g.6617166G>A | GRCh38 |
| NC_000011.9:g.6638397G>A , CM000673.1:g.6638397G>A | GRCh37 |
| NC_000011.8:g.6594973G>A | NCBI36 |
| NG_008653.1:g.7296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.395-13C>T | ENSP00000507321.1:n.395-13C>T | |
| ENST00000299427.12:c.509-13C>T MANE Select | ENSP00000299427.6:n.509-13C>T | |
| ENST00000428886.7:n.731C>T | ||
| ENST00000436873.7:c.312+135C>T | ||
| ENST00000524788.2:n.1655C>T | ||
| ENST00000524903.2:n.1771C>T | ||
| ENST00000528807.2:n.165-13C>T | ||
| ENST00000530040.2:n.479+193C>T | ||
| ENST00000533371.6:c.-221-13C>T | ENSP00000437066.1:n.-221-13C>T | |
| ENST00000534644.6:n.457-13C>T | ||
| ENST00000642892.1:c.-221-13C>T | ENSP00000494165.1:n.-221-13C>T | |
| ENST00000643439.1:c.*249-13C>T | ENSP00000495849.1:n.*249-13C>T | |
| ENST00000643479.1:n.538-13C>T | ||
| ENST00000643516.1:c.395+135C>T | ||
| ENST00000644151.1:n.1935C>T | ||
| ENST00000644218.1:c.509-13C>T | ENSP00000493574.1:n.509-13C>T | |
| ENST00000644683.1:c.451-13C>T | ENSP00000494085.1:n.451-13C>T | |
| ENST00000644810.1:c.230-13C>T | ENSP00000495895.1:n.230-13C>T | |
| ENST00000644831.1:n.672C>T | ||
| ENST00000644933.1:c.-221-13C>T | ENSP00000496133.1:n.-221-13C>T | |
| ENST00000645020.1:n.1671C>T | ||
| ENST00000645285.1:c.-221-13C>T | ENSP00000495058.1:n.-221-13C>T | |
| ENST00000645331.1:n.862C>T | ||
| ENST00000645620.1:c.-221-13C>T | ENSP00000493657.1:n.-221-13C>T | |
| ENST00000646777.1:n.672C>T | ||
| ENST00000647016.1:n.976C>T | ||
| ENST00000647152.1:c.-221-13C>T | ENSP00000495893.1:n.-221-13C>T | |
| ENST00000647209.1:c.*378-13C>T | ENSP00000495558.1:n.*378-13C>T | |
| ENST00000647346.1:n.1529-13C>T | ||
| ENST00000299427.10:c.509-13C>T | ENSP00000299427.6:n.509-13C>T | |
| ENST00000428886.6:n.665C>T | ||
| ENST00000436873.6:c.450+193C>T | ENSP00000398136.2:n.450+193C>T | |
| ENST00000524788.1:n.196C>T | ||
| ENST00000528571.5:c.*249-13C>T | ENSP00000434647.1:n.*249-13C>T | |
| ENST00000528807.1:n.46C>T | ||
| ENST00000533371.5:c.-221-13C>T | ENSP00000437066.1:n.-221-13C>T | |
| ENST00000534644.5:n.494-13C>T | ||
| ENST00000611494.4:c.509-13C>T | ENSP00000484546.1:n.509-13C>T | |
| NM_000391.3:c.509-13C>T | NP_000382.3:n.509-13C>T | |
| NM_000391.4:c.509-13C>T MANE Select | NP_000382.3:n.509-13C>T |