Linked Data
dbSNP Id:
rs756196889
ExAC:
8:100729377 C / G
gnomAD v2:
8-100729377-C-G
gnomAD v4:
8-99717149-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99717149C>G , CM000670.2:g.99717149C>G | GRCh38 |
| NC_000008.10:g.100729377C>G , CM000670.1:g.100729377C>G | GRCh37 |
| NC_000008.9:g.100798553C>G | NCBI36 |
| NG_007098.2:g.708884C>G , LRG_351:g.708884C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.6530-22C>G | ENSP00000507923.1:n.6530-22C>G | |
| ENST00000682358.1:n.6600-22C>G | ||
| ENST00000683334.1:c.*2212-22C>G | ENSP00000507369.1:n.*2212-22C>G | |
| ENST00000357162.7:c.6455-22C>G MANE Select | ENSP00000349685.2:n.6455-22C>G | |
| ENST00000358544.7:c.6530-22C>G MANE Plus Clinical | ENSP00000351346.2:n.6530-22C>G | |
| ENST00000357162.6:c.6455-22C>G | ENSP00000349685.2:n.6455-22C>G | |
| ENST00000358544.6:c.6530-22C>G | ENSP00000351346.2:n.6530-22C>G | |
| NM_017890.4:c.6530-22C>G , LRG_351t1:c.6530-22C>G | NP_060360.3:n.6530-22C>G | |
| NM_152564.4:c.6455-22C>G , LRG_351t2:c.6455-22C>G | NP_689777.3:n.6455-22C>G | |
| XM_005250800.2:c.6530-22C>G | XP_005250857.1:n.6530-22C>G | |
| XM_005250801.3:c.6530-22C>G | XP_005250858.1:n.6530-22C>G | |
| XM_011516848.1:c.6527-22C>G | XP_011515150.1:n.6527-22C>G | |
| XM_011516849.1:c.6452-22C>G | XP_011515151.1:n.6452-22C>G | |
| XM_011516850.1:c.6152-22C>G | XP_011515152.1:n.6152-22C>G | |
| XM_011516851.1:c.3416-22C>G | XP_011515153.1:n.3416-22C>G | |
| XM_011516852.1:c.3416-22C>G | XP_011515154.1:n.3416-22C>G | |
| XM_011516853.1:c.6530-22C>G | XP_011515155.1:n.6530-22C>G | |
| XM_011516854.1:c.2309-22C>G | XP_011515156.1:n.2309-22C>G | |
| XM_005250800.3:c.6530-22C>G | XP_005250857.1:n.6530-22C>G | |
| XM_005250801.5:c.6530-22C>G | XP_005250858.1:n.6530-22C>G | |
| XM_011516848.2:c.6527-22C>G | XP_011515150.1:n.6527-22C>G | |
| XM_011516849.2:c.6452-22C>G | XP_011515151.1:n.6452-22C>G | |
| XM_011516850.2:c.6152-22C>G | XP_011515152.1:n.6152-22C>G | |
| XM_011516851.2:c.3416-22C>G | XP_011515153.1:n.3416-22C>G | |
| XM_011516852.2:c.3416-22C>G | XP_011515154.1:n.3416-22C>G | |
| XM_011516853.2:c.6530-22C>G | XP_011515155.1:n.6530-22C>G | |
| XM_011516854.2:c.2309-22C>G | XP_011515156.1:n.2309-22C>G | |
| XM_017013109.1:c.6335-22C>G | XP_016868598.1:n.6335-22C>G | |
| XM_017013111.1:c.3416-22C>G | XP_016868600.1:n.3416-22C>G | |
| XM_017013112.1:c.2087-22C>G | XP_016868601.1:n.2087-22C>G | |
| XM_024447074.1:c.5315-22C>G | XP_024302842.1:n.5315-22C>G | |
| NM_017890.5:c.6530-22C>G MANE Plus Clinical | NP_060360.3:n.6530-22C>G | |
| NM_152564.5:c.6455-22C>G MANE Select | NP_689777.3:n.6455-22C>G |