Linked Data
dbSNP Id:
rs752342008
ExAC:
16:75670330 A / G
gnomAD v2:
16-75670330-A-G
gnomAD v4:
16-75636432-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75636432A>G , CM000678.2:g.75636432A>G | GRCh38 |
| NC_000016.9:g.75670330A>G , CM000678.1:g.75670330A>G | GRCh37 |
| NC_000016.8:g.74227831A>G | NCBI36 |
| NG_028025.1:g.16256T>C , LRG_366:g.16256T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302445.8:c.482+22T>C MANE Select | ENSP00000303043.3:n.482+22T>C | |
| ENST00000302445.7:c.482+22T>C | ENSP00000303043.3:n.482+22T>C | |
| ENST00000319410.9:c.566+22T>C | ENSP00000325448.5:n.566+22T>C | |
| ENST00000562875.5:c.223-334T>C | ENSP00000456185.1:n.223-334T>C | |
| ENST00000564578.5:c.*25+22T>C | ENSP00000455818.1:n.*25+22T>C | |
| ENST00000566249.5:c.284+22T>C | ||
| ENST00000566560.5:n.596+22T>C | ||
| ENST00000568378.5:c.146+7851T>C | ENSP00000454512.1:n.146+7851T>C | |
| ENST00000568682.5:c.14+22T>C | ENSP00000462057.1:n.14+22T>C | |
| ENST00000570215.1:c.566+22T>C | ENSP00000458028.1:n.566+22T>C | |
| NM_001130089.1:c.566+22T>C , LRG_366t1:c.566+22T>C | NP_001123561.1:n.566+22T>C | |
| NM_005548.2:c.482+22T>C | NP_005539.1:n.482+22T>C | |
| XM_017023217.1:c.14+22T>C | XP_016878706.1:n.14+22T>C | |
| NM_001130089.2:c.566+22T>C | NP_001123561.1:n.566+22T>C | |
| NM_001378148.1:c.14+22T>C | NP_001365077.1:n.14+22T>C | |
| NM_005548.3:c.482+22T>C MANE Select | NP_005539.1:n.482+22T>C |