Linked Data
dbSNP Id:
rs2294773
gnomAD v2:
6-142765405-C-G
gnomAD v3:
6-142444268-C-G
gnomAD v4:
6-142444268-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.142444268C>G , CM000668.2:g.142444268C>G | GRCh38 |
| NC_000006.11:g.142765405C>G , CM000668.1:g.142765405C>G | GRCh37 |
| NC_000006.10:g.142807098C>G | NCBI36 |
| NG_011839.1:g.147350C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296932.13:c.*886C>G | ENSP00000296932.8:n.*886C>G | |
| ENST00000367609.8:c.*753C>G MANE Select | ENSP00000356581.3:n.*753C>G | |
| ENST00000230173.10:c.*886C>G | ENSP00000230173.6:n.*886C>G | |
| ENST00000296932.12:c.*886C>G | ENSP00000296932.8:n.*886C>G | |
| ENST00000367608.6:c.*753C>G | ENSP00000356580.2:n.*753C>G | |
| ENST00000367609.7:c.*753C>G | ENSP00000356581.3:n.*753C>G | |
| NM_001032394.2:c.*886C>G | NP_001027566.1:n.*886C>G | |
| NM_001032395.2:c.*753C>G | NP_001027567.1:n.*753C>G | |
| NM_020455.5:c.*886C>G | NP_065188.4:n.*886C>G | |
| NM_198569.2:c.*753C>G | NP_940971.1:n.*753C>G | |
| XM_005267061.2:c.*886C>G | XP_005267118.1:n.*886C>G | |
| XM_006715516.2:c.*753C>G | XP_006715579.1:n.*753C>G | |
| XM_006715517.2:c.*753C>G | XP_006715580.1:n.*753C>G | |
| XM_006715518.2:c.*753C>G | XP_006715581.1:n.*753C>G | |
| XM_011535964.1:c.*753C>G | XP_011534266.1:n.*753C>G | |
| XM_005267061.3:c.*886C>G | XP_005267118.1:n.*886C>G | |
| NM_198569.3:c.*753C>G MANE Select | NP_940971.2:n.*753C>G | |
| NM_001032394.3:c.*886C>G | NP_001027566.2:n.*886C>G | |
| NM_001032395.3:c.*753C>G | NP_001027567.2:n.*753C>G | |
| NM_020455.6:c.*886C>G | NP_065188.5:n.*886C>G |