Linked Data
dbSNP Id:
rs1027617
gnomAD v2:
11-16842787-G-A
gnomAD v3:
11-16821240-G-A
gnomAD v4:
11-16821240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16821240G>A , CM000673.2:g.16821240G>A | GRCh38 |
| NC_000011.9:g.16842787G>A , CM000673.1:g.16842787G>A | GRCh37 |
| NC_000011.8:g.16799363G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696749.1:c.1215-3918C>T | ENSP00000512848.1:n.1215-3918C>T | |
| ENST00000698836.1:c.1344-3918C>T | ENSP00000513972.1:n.1344-3918C>T | |
| ENST00000531066.6:c.1344-3918C>T MANE Select | ENSP00000435389.1:n.1344-3918C>T | |
| ENST00000637162.1:c.1039-3918C>T | ||
| ENST00000355661.7:c.1344-3918C>T | ENSP00000347883.2:n.1344-3918C>T | |
| ENST00000530489.5:c.236-3918C>T | ||
| ENST00000531066.5:c.1344-3918C>T | ENSP00000435389.1:n.1344-3918C>T | |
| ENST00000532079.1:c.82-31371C>T | ENSP00000434812.1:n.82-31371C>T | |
| NM_175058.4:c.1344-3918C>T | NP_778228.3:n.1344-3918C>T | |
| XM_006718149.2:c.1344-3918C>T | XP_006718212.1:n.1344-3918C>T | |
| XM_011519910.1:c.1206-3918C>T | XP_011518212.1:n.1206-3918C>T | |
| XM_011519911.1:c.1170-3918C>T | XP_011518213.1:n.1170-3918C>T | |
| XM_011519912.1:c.1140-3918C>T | XP_011518214.1:n.1140-3918C>T | |
| XM_011519913.1:c.1290-3918C>T | XP_011518215.1:n.1290-3918C>T | |
| XM_011519914.1:c.1344-3918C>T | XP_011518216.1:n.1344-3918C>T | |
| XM_011519915.1:c.1062-3918C>T | XP_011518217.1:n.1062-3918C>T | |
| XM_011519916.1:c.1290-3918C>T | XP_011518218.1:n.1290-3918C>T | |
| XM_011519917.1:c.633-3918C>T | XP_011518219.1:n.633-3918C>T | |
| NM_001329630.1:c.1344-3918C>T | NP_001316559.1:n.1344-3918C>T | |
| NM_001329631.1:c.1344-3918C>T | NP_001316560.1:n.1344-3918C>T | |
| XM_017017241.2:c.1344-3918C>T | XP_016872730.1:n.1344-3918C>T | |
| XM_017017242.2:c.1344-3918C>T | XP_016872731.1:n.1344-3918C>T | |
| XM_024448356.1:c.1344-3918C>T | XP_024304124.1:n.1344-3918C>T | |
| XM_024448357.1:c.1344-3918C>T | XP_024304125.1:n.1344-3918C>T | |
| XM_024448358.1:c.1344-3918C>T | XP_024304126.1:n.1344-3918C>T | |
| XM_024448359.1:c.1344-3918C>T | XP_024304127.1:n.1344-3918C>T | |
| XM_024448360.1:c.1344-3918C>T | XP_024304128.1:n.1344-3918C>T | |
| XM_024448361.1:c.1206-3918C>T | XP_024304129.1:n.1206-3918C>T | |
| XM_024448362.1:c.1170-3918C>T | XP_024304130.1:n.1170-3918C>T | |
| XM_024448363.1:c.1344-3918C>T | XP_024304131.1:n.1344-3918C>T | |
| XM_024448364.1:c.1344-3918C>T | XP_024304132.1:n.1344-3918C>T | |
| XM_024448365.1:c.1062-3918C>T | XP_024304133.1:n.1062-3918C>T | |
| XM_024448366.1:c.1026-3918C>T | XP_024304134.1:n.1026-3918C>T | |
| XM_024448367.1:c.1026-3918C>T | XP_024304135.1:n.1026-3918C>T | |
| XM_024448368.1:c.1026-3918C>T | XP_024304136.1:n.1026-3918C>T | |
| XM_024448369.1:c.1026-3918C>T | XP_024304137.1:n.1026-3918C>T | |
| XM_024448370.1:c.1344-3918C>T | XP_024304138.1:n.1344-3918C>T | |
| XR_002957126.1:n.1366-3918C>T | ||
| NM_001329630.2:c.1344-3918C>T MANE Select | NP_001316559.1:n.1344-3918C>T | |
| NM_001329631.2:c.1344-3918C>T | NP_001316560.1:n.1344-3918C>T | |
| NM_175058.5:c.1344-3918C>T | NP_778228.3:n.1344-3918C>T |