Linked Data
dbSNP Id:
rs551604119
ExAC:
8:100831852 C / A
gnomAD v2:
8-100831852-C-A
gnomAD v3:
8-99819624-C-A
gnomAD v4:
8-99819624-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99819624C>A , CM000670.2:g.99819624C>A | GRCh38 |
| NC_000008.10:g.100831852C>A , CM000670.1:g.100831852C>A | GRCh37 |
| NC_000008.9:g.100901028C>A | NCBI36 |
| NG_007098.2:g.811359C>A , LRG_351:g.811359C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.8867+42C>A | ENSP00000507923.1:n.8867+42C>A | |
| ENST00000682358.1:n.8937+42C>A | ||
| ENST00000683334.1:c.*4549+42C>A | ENSP00000507369.1:n.*4549+42C>A | |
| ENST00000357162.7:c.8792+42C>A MANE Select | ENSP00000349685.2:n.8792+42C>A | |
| ENST00000358544.7:c.8867+42C>A MANE Plus Clinical | ENSP00000351346.2:n.8867+42C>A | |
| ENST00000357162.6:c.8792+42C>A | ENSP00000349685.2:n.8792+42C>A | |
| ENST00000358544.6:c.8867+42C>A | ENSP00000351346.2:n.8867+42C>A | |
| NM_017890.4:c.8867+42C>A , LRG_351t1:c.8867+42C>A | NP_060360.3:n.8867+42C>A | |
| NM_152564.4:c.8792+42C>A , LRG_351t2:c.8792+42C>A | NP_689777.3:n.8792+42C>A | |
| XM_005250800.2:c.8867+42C>A | XP_005250857.1:n.8867+42C>A | |
| XM_005250801.3:c.8867+42C>A | XP_005250858.1:n.8867+42C>A | |
| XM_011516848.1:c.8864+42C>A | XP_011515150.1:n.8864+42C>A | |
| XM_011516849.1:c.8789+42C>A | XP_011515151.1:n.8789+42C>A | |
| XM_011516850.1:c.8489+42C>A | XP_011515152.1:n.8489+42C>A | |
| XM_011516851.1:c.5753+42C>A | XP_011515153.1:n.5753+42C>A | |
| XM_011516852.1:c.5753+42C>A | XP_011515154.1:n.5753+42C>A | |
| XM_011516854.1:c.4646+42C>A | XP_011515156.1:n.4646+42C>A | |
| XM_005250800.3:c.8867+42C>A | XP_005250857.1:n.8867+42C>A | |
| XM_005250801.5:c.8867+42C>A | XP_005250858.1:n.8867+42C>A | |
| XM_011516848.2:c.8864+42C>A | XP_011515150.1:n.8864+42C>A | |
| XM_011516849.2:c.8789+42C>A | XP_011515151.1:n.8789+42C>A | |
| XM_011516850.2:c.8489+42C>A | XP_011515152.1:n.8489+42C>A | |
| XM_011516851.2:c.5753+42C>A | XP_011515153.1:n.5753+42C>A | |
| XM_011516852.2:c.5753+42C>A | XP_011515154.1:n.5753+42C>A | |
| XM_011516854.2:c.4646+42C>A | XP_011515156.1:n.4646+42C>A | |
| XM_017013109.1:c.8672+42C>A | XP_016868598.1:n.8672+42C>A | |
| XM_017013111.1:c.5753+42C>A | XP_016868600.1:n.5753+42C>A | |
| XM_017013112.1:c.4424+42C>A | XP_016868601.1:n.4424+42C>A | |
| XM_024447074.1:c.7652+42C>A | XP_024302842.1:n.7652+42C>A | |
| NM_017890.5:c.8867+42C>A MANE Plus Clinical | NP_060360.3:n.8867+42C>A | |
| NM_152564.5:c.8792+42C>A MANE Select | NP_689777.3:n.8792+42C>A |