Linked Data
dbSNP Id:
rs223492
ExAC:
4:103675108 G / C
gnomAD v2:
4-103675108-G-C
gnomAD v3:
4-102753951-G-C
gnomAD v4:
4-102753951-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102753951G>C , CM000666.2:g.102753951G>C | GRCh38 |
| NC_000004.11:g.103675108G>C , CM000666.1:g.103675108G>C | GRCh37 |
| NG_012804.1:g.12044C>G | |
| NG_012804.2:g.12044C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642252.1:c.177+6767C>G | ENSP00000495483.1:n.177+6767C>G | |
| ENST00000644159.1:c.177+6767C>G | ENSP00000494462.1:n.177+6767C>G | |
| ENST00000644545.1:c.177+6767C>G | ENSP00000493992.1:n.177+6767C>G | |
| ENST00000644965.1:c.177+6767C>G | ENSP00000495818.1:n.177+6767C>G | |
| ENST00000645348.1:c.177+6767C>G | ENSP00000495363.1:n.177+6767C>G | |
| ENST00000646311.1:c.177+6767C>G | ENSP00000493465.1:n.177+6767C>G | |
| ENST00000646727.1:c.177+6767C>G | ENSP00000493519.1:n.177+6767C>G | |
| ENST00000647097.2:c.177+6767C>G MANE Select | ENSP00000495247.1:n.177+6767C>G | |
| ENST00000226578.8:c.177+6767C>G | ENSP00000226578.4:n.177+6767C>G | |
| ENST00000505239.1:c.177+6767C>G | ENSP00000427322.1:n.177+6767C>G | |
| ENST00000507358.1:n.322C>G | ||
| ENST00000511813.1:c.*15C>G | ENSP00000422001.1:n.*15C>G | |
| ENST00000514430.5:n.224+6767C>G | ||
| NM_005908.3:c.177+6767C>G | NP_005899.3:n.177+6767C>G | |
| XM_017008203.1:c.-315C>G | XP_016863692.1:n.-315C>G | |
| XM_017008204.2:c.-348+6767C>G | XP_016863693.1:n.-348+6767C>G | |
| NM_005908.4:c.177+6767C>G MANE Select | NP_005899.3:n.177+6767C>G |