Linked Data
dbSNP Id:
rs11024060
gnomAD v2:
11-16881961-T-C
gnomAD v3:
11-16860414-T-C
gnomAD v4:
11-16860414-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16860414T>C , CM000673.2:g.16860414T>C | GRCh38 |
| NC_000011.9:g.16881961T>C , CM000673.1:g.16881961T>C | GRCh37 |
| NC_000011.8:g.16838537T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696749.1:c.177-4500A>G | ENSP00000512848.1:n.177-4500A>G | |
| ENST00000698836.1:c.306-4500A>G | ENSP00000513972.1:n.306-4500A>G | |
| ENST00000531066.6:c.306-4500A>G MANE Select | ENSP00000435389.1:n.306-4500A>G | |
| ENST00000355661.7:c.306-4500A>G | ENSP00000347883.2:n.306-4500A>G | |
| ENST00000528376.5:c.-13-4500A>G | ENSP00000435806.1:n.-13-4500A>G | |
| ENST00000528637.5:n.421-4500A>G | ||
| ENST00000529213.1:n.350-4500A>G | ||
| ENST00000531066.5:c.306-4500A>G | ENSP00000435389.1:n.306-4500A>G | |
| ENST00000532079.1:c.82-70545A>G | ENSP00000434812.1:n.82-70545A>G | |
| NM_175058.4:c.306-4500A>G | NP_778228.3:n.306-4500A>G | |
| XM_006718149.2:c.306-4500A>G | XP_006718212.1:n.306-4500A>G | |
| XM_011519910.1:c.168-4500A>G | XP_011518212.1:n.168-4500A>G | |
| XM_011519911.1:c.132-4500A>G | XP_011518213.1:n.132-4500A>G | |
| XM_011519912.1:c.102-4500A>G | XP_011518214.1:n.102-4500A>G | |
| XM_011519913.1:c.252-4500A>G | XP_011518215.1:n.252-4500A>G | |
| XM_011519914.1:c.306-4500A>G | XP_011518216.1:n.306-4500A>G | |
| XM_011519916.1:c.252-4500A>G | XP_011518218.1:n.252-4500A>G | |
| NM_001329630.1:c.306-4500A>G | NP_001316559.1:n.306-4500A>G | |
| NM_001329631.1:c.306-4500A>G | NP_001316560.1:n.306-4500A>G | |
| XM_017017241.2:c.306-4500A>G | XP_016872730.1:n.306-4500A>G | |
| XM_017017242.2:c.306-4500A>G | XP_016872731.1:n.306-4500A>G | |
| XM_024448356.1:c.306-4500A>G | XP_024304124.1:n.306-4500A>G | |
| XM_024448357.1:c.306-4500A>G | XP_024304125.1:n.306-4500A>G | |
| XM_024448358.1:c.306-4500A>G | XP_024304126.1:n.306-4500A>G | |
| XM_024448359.1:c.306-4500A>G | XP_024304127.1:n.306-4500A>G | |
| XM_024448360.1:c.306-4500A>G | XP_024304128.1:n.306-4500A>G | |
| XM_024448361.1:c.168-4500A>G | XP_024304129.1:n.168-4500A>G | |
| XM_024448362.1:c.132-4500A>G | XP_024304130.1:n.132-4500A>G | |
| XM_024448363.1:c.306-4500A>G | XP_024304131.1:n.306-4500A>G | |
| XM_024448364.1:c.306-4500A>G | XP_024304132.1:n.306-4500A>G | |
| XM_024448366.1:c.-13-4500A>G | XP_024304134.1:n.-13-4500A>G | |
| XM_024448367.1:c.-13-4500A>G | XP_024304135.1:n.-13-4500A>G | |
| XM_024448368.1:c.-13-4500A>G | XP_024304136.1:n.-13-4500A>G | |
| XM_024448369.1:c.-14+2830A>G | XP_024304137.1:n.-14+2830A>G | |
| XM_024448370.1:c.306-4500A>G | XP_024304138.1:n.306-4500A>G | |
| XR_002957126.1:n.328-4500A>G | ||
| NM_001329630.2:c.306-4500A>G MANE Select | NP_001316559.1:n.306-4500A>G | |
| NM_001329631.2:c.306-4500A>G | NP_001316560.1:n.306-4500A>G | |
| NM_175058.5:c.306-4500A>G | NP_778228.3:n.306-4500A>G |