Linked Data
dbSNP Id:
rs765331957
ExAC:
1:67724814 C / G
gnomAD v2:
1-67724814-C-G
gnomAD v4:
1-67259131-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67259131C>G , CM000663.2:g.67259131C>G | GRCh38 |
| NC_000001.10:g.67724814C>G , CM000663.1:g.67724814C>G | GRCh37 |
| NC_000001.9:g.67497402C>G | NCBI36 |
| NG_011498.1:g.97646C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347310.10:c.*3C>G MANE Select | ENSP00000321345.5:n.*3C>G | |
| ENST00000637002.1:c.*3C>G | ENSP00000490340.1:n.*3C>G | |
| ENST00000347310.9:c.*3C>G | ENSP00000321345.5:n.*3C>G | |
| ENST00000395227.2:c.*3C>G | ENSP00000378652.2:n.*3C>G | |
| ENST00000425614.3:c.*3C>G | ENSP00000387640.2:n.*3C>G | |
| ENST00000473881.2:c.*719C>G | ENSP00000486667.1:n.*719C>G | |
| NM_144701.2:c.*3C>G | NP_653302.2:n.*3C>G | |
| XM_005270516.2:c.*3C>G | XP_005270573.1:n.*3C>G | |
| XM_011540789.1:c.*3C>G | XP_011539091.1:n.*3C>G | |
| XM_011540790.1:c.*3C>G | XP_011539092.1:n.*3C>G | |
| XM_011540791.1:c.*3C>G | XP_011539093.1:n.*3C>G | |
| XM_011540790.3:c.*3C>G | XP_011539092.1:n.*3C>G | |
| XM_011540791.3:c.*3C>G | XP_011539093.1:n.*3C>G | |
| NM_144701.3:c.*3C>G MANE Select | NP_653302.2:n.*3C>G |