Linked Data
ClinVar Variation Id:
381560
dbSNP Id:
rs935526225
gnomAD v3:
11-6616521-T-C
gnomAD v4:
11-6616521-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616521T>C , CM000673.2:g.6616521T>C | GRCh38 |
| NC_000011.9:g.6637752T>C , CM000673.1:g.6637752T>C | GRCh37 |
| NC_000011.8:g.6594328T>C | NCBI36 |
| NG_008653.1:g.7941A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.773-18A>G | ENSP00000507321.1:n.773-18A>G | |
| ENST00000299427.12:c.887-18A>G MANE Select | ENSP00000299427.6:n.887-18A>G | |
| ENST00000436873.7:c.313-447A>G | ||
| ENST00000524903.2:n.2301A>G | ||
| ENST00000530040.2:n.480-18A>G | ||
| ENST00000533371.6:c.158-18A>G | ENSP00000437066.1:n.158-18A>G | |
| ENST00000642892.1:c.158-18A>G | ENSP00000494165.1:n.158-18A>G | |
| ENST00000643439.1:c.*627-18A>G | ENSP00000495849.1:n.*627-18A>G | |
| ENST00000643479.1:n.1055A>G | ||
| ENST00000643516.1:c.396-18A>G | ||
| ENST00000644218.1:c.886+140A>G | ENSP00000493574.1:n.886+140A>G | |
| ENST00000644683.1:c.*340-18A>G | ENSP00000494085.1:n.*340-18A>G | |
| ENST00000644810.1:c.608-18A>G | ENSP00000495895.1:n.608-18A>G | |
| ENST00000644831.1:n.1063-18A>G | ||
| ENST00000644933.1:c.158-18A>G | ENSP00000496133.1:n.158-18A>G | |
| ENST00000645285.1:c.157+140A>G | ENSP00000495058.1:n.157+140A>G | |
| ENST00000645331.1:n.1392A>G | ||
| ENST00000645620.1:c.158-18A>G | ENSP00000493657.1:n.158-18A>G | |
| ENST00000646777.1:n.1202A>G | ||
| ENST00000647016.1:n.1367-18A>G | ||
| ENST00000647152.1:c.158-18A>G | ENSP00000495893.1:n.158-18A>G | |
| ENST00000647209.1:c.*756-18A>G | ENSP00000495558.1:n.*756-18A>G | |
| ENST00000647346.1:n.1907-18A>G | ||
| ENST00000299427.10:c.887-18A>G | ENSP00000299427.6:n.887-18A>G | |
| ENST00000436873.6:c.451-18A>G | ENSP00000398136.2:n.451-18A>G | |
| ENST00000528807.1:n.576A>G | ||
| ENST00000533371.5:c.158-18A>G | ENSP00000437066.1:n.158-18A>G | |
| ENST00000611494.4:c.887-18A>G | ENSP00000484546.1:n.887-18A>G | |
| NM_000391.3:c.887-18A>G | NP_000382.3:n.887-18A>G | |
| NM_000391.4:c.887-18A>G MANE Select | NP_000382.3:n.887-18A>G |