Linked Data
dbSNP Id:
rs775545463
ExAC:
12:80752411 C / G
gnomAD v2:
12-80752411-C-G
gnomAD v3:
12-80358631-C-G
gnomAD v4:
12-80358631-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80358631C>G , CM000674.2:g.80358631C>G | GRCh38 |
| NC_000012.11:g.80752411C>G , CM000674.1:g.80752411C>G | GRCh37 |
| NC_000012.10:g.79276542C>G | NCBI36 |
| NG_033008.1:g.154179C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.6122-40C>G MANE Select | ENSP00000447211.2:n.6122-40C>G | |
| ENST00000642294.1:c.62-40C>G | ENSP00000493572.1:n.62-40C>G | |
| ENST00000646859.1:c.5987-40C>G | ENSP00000496036.1:n.5987-40C>G | |
| ENST00000298820.7:c.1423-40C>G | ||
| ENST00000458043.6:c.6095-40C>G | ENSP00000400895.2:n.6095-40C>G | |
| ENST00000546620.5:n.378-40C>G | ||
| ENST00000547103.5:c.6059-40C>G | ENSP00000447211.1:n.6059-40C>G | |
| ENST00000550182.2:c.146-40C>G | ENSP00000449641.1:n.146-40C>G | |
| ENST00000551340.5:c.250-40C>G | ||
| NM_173591.3:c.6095-40C>G | NP_775862.3:n.6095-40C>G | |
| XM_005268802.2:c.6146-40C>G | XP_005268859.1:n.6146-40C>G | |
| XM_011538191.1:c.6146-40C>G | XP_011536493.1:n.6146-40C>G | |
| XM_011538192.1:c.5993-40C>G | XP_011536494.1:n.5993-40C>G | |
| XM_011538193.1:c.5780-40C>G | XP_011536495.1:n.5780-40C>G | |
| XM_005268802.3:c.6146-40C>G | XP_005268859.1:n.6146-40C>G | |
| XM_011538192.2:c.5993-40C>G | XP_011536494.1:n.5993-40C>G | |
| NM_001368062.1:c.5960-40C>G | NP_001354991.1:n.5960-40C>G | |
| NM_001368062.3:c.5987-40C>G | NP_001354991.2:n.5987-40C>G | |
| NM_001378609.3:c.6122-40C>G MANE Select | NP_001365538.2:n.6122-40C>G | |
| NM_001378610.3:c.6122-40C>G | NP_001365539.2:n.6122-40C>G | |
| NM_173591.7:c.6122-40C>G | NP_775862.4:n.6122-40C>G |