Linked Data
dbSNP Id:
rs1266252582
gnomAD v4:
6-29942112-C-G
MyVariant Identifiers:
chr6:g.29909889C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29942112C>G , CM000668.2:g.29942112C>G | GRCh38 |
| NC_000006.11:g.29909889C>G , CM000668.1:g.29909889C>G | GRCh37 |
| NC_000006.10:g.30017868C>G | NCBI36 |
| NG_029217.2:g.4647C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706892.1:n.126+16C>G | ||
| ENST00000706893.1:c.-151+16C>G | ENSP00000516609.1:n.-151+16C>G | |
| ENST00000706894.1:c.-151+16C>G | ENSP00000516610.1:n.-151+16C>G | |
| ENST00000706895.1:n.126+16C>G | ||
| ENST00000706896.1:n.126+16C>G | ||
| ENST00000706897.1:n.126+16C>G | ||
| ENST00000706898.1:c.-151+16C>G | ENSP00000516611.1:n.-151+16C>G | |
| ENST00000706899.1:n.126+16C>G | ||
| ENST00000706901.1:c.-151+16C>G | ENSP00000516612.1:n.-151+16C>G | |
| ENST00000706902.1:c.-151+16C>G | ENSP00000516613.1:n.-151+16C>G | |
| ENST00000706903.1:c.-151+16C>G | ENSP00000516614.1:n.-151+16C>G | |
| ENST00000706904.1:c.-151+16C>G | ENSP00000516615.1:n.-151+16C>G | |
| ENST00000396634.5:c.-151+16C>G | ENSP00000379873.1:n.-151+16C>G | |
| ENST00000429656.1:n.956G>C |