Linked Data
dbSNP Id:
rs12679874
gnomAD v2:
8-27230819-A-G
gnomAD v3:
8-27373302-A-G
gnomAD v4:
8-27373302-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27373302A>G , CM000670.2:g.27373302A>G | GRCh38 |
| NC_000008.10:g.27230819A>G , CM000670.1:g.27230819A>G | GRCh37 |
| NC_000008.9:g.27286736A>G | NCBI36 |
| NG_029510.1:g.66821A>G | |
| NG_029510.2:g.66821A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346049.10:c.-37-24246A>G MANE Select | ENSP00000332816.6:n.-37-24246A>G | |
| ENST00000346049.9:c.-37-24246A>G | ENSP00000332816.6:n.-37-24246A>G | |
| ENST00000397501.5:c.-37-24246A>G | ENSP00000380638.1:n.-37-24246A>G | |
| ENST00000420218.3:c.-37-24246A>G | ENSP00000391995.2:n.-37-24246A>G | |
| ENST00000521164.5:c.-37-24246A>G | ENSP00000430404.1:n.-37-24246A>G | |
| ENST00000522338.5:c.-37-24246A>G | ENSP00000429694.1:n.-37-24246A>G | |
| ENST00000522517.5:c.-37-24246A>G | ENSP00000428271.1:n.-37-24246A>G | |
| NM_004103.4:c.-37-24246A>G | NP_004094.3:n.-37-24246A>G | |
| NM_173174.2:c.-37-24246A>G | NP_775266.1:n.-37-24246A>G | |
| NM_173175.2:c.-37-24246A>G | NP_775267.1:n.-37-24246A>G | |
| NM_173176.2:c.-37-24246A>G | NP_775268.1:n.-37-24246A>G | |
| XM_005273448.3:c.-37-24246A>G | XP_005273505.1:n.-37-24246A>G | |
| XM_011544441.1:c.-37-24246A>G | XP_011542743.1:n.-37-24246A>G | |
| XM_011544442.1:c.-37-24246A>G | XP_011542744.1:n.-37-24246A>G | |
| XM_005273448.5:c.-37-24246A>G | XP_005273505.1:n.-37-24246A>G | |
| XM_011544441.2:c.-37-24246A>G | XP_011542743.1:n.-37-24246A>G | |
| XM_011544442.3:c.-37-24246A>G | XP_011542744.1:n.-37-24246A>G | |
| XM_017013214.1:c.-37-24246A>G | XP_016868703.1:n.-37-24246A>G | |
| XM_017013215.1:c.-37-24246A>G | XP_016868704.1:n.-37-24246A>G | |
| XM_017013216.2:c.-37-24246A>G | XP_016868705.1:n.-37-24246A>G | |
| NM_173176.3:c.-37-24246A>G MANE Select | NP_775268.1:n.-37-24246A>G | |
| NM_173174.3:c.-37-24246A>G | NP_775266.1:n.-37-24246A>G |