Linked Data
dbSNP Id:
rs12708716
gnomAD v2:
16-11179873-A-G
gnomAD v3:
16-11086016-A-G
gnomAD v4:
16-11086016-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11086016A>G , CM000678.2:g.11086016A>G | GRCh38 |
| NC_000016.9:g.11179873A>G , CM000678.1:g.11179873A>G | GRCh37 |
| NC_000016.8:g.11087374A>G | NCBI36 |
| NG_016757.1:g.146529A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703130.1:c.2110+24994A>G | ENSP00000515187.1:n.2110+24994A>G | |
| ENST00000409790.6:c.2116+24994A>G MANE Select | ENSP00000387122.1:n.2116+24994A>G | |
| ENST00000646363.1:n.777+24994A>G | ||
| ENST00000409552.4:c.2062+24994A>G | ENSP00000386495.3:n.2062+24994A>G | |
| ENST00000409790.5:c.2116+24994A>G | ENSP00000387122.1:n.2116+24994A>G | |
| ENST00000465491.5:n.772+24994A>G | ||
| NM_001243403.1:c.2062+24994A>G | NP_001230332.1:n.2062+24994A>G | |
| NM_015226.2:c.2116+24994A>G | NP_056041.1:n.2116+24994A>G | |
| XM_005255210.1:c.2110+24994A>G | XP_005255267.1:n.2110+24994A>G | |
| XM_005255211.1:c.2068+24994A>G | XP_005255268.1:n.2068+24994A>G | |
| XM_005255213.1:c.2062+24994A>G | XP_005255270.1:n.2062+24994A>G | |
| XM_005255214.1:c.2116+24994A>G | XP_005255271.1:n.2116+24994A>G | |
| XM_005255215.3:c.2116+24994A>G | XP_005255272.1:n.2116+24994A>G | |
| XM_005255216.1:c.2116+24994A>G | XP_005255273.1:n.2116+24994A>G | |
| XM_011522434.1:c.1987+24994A>G | XP_011520736.1:n.1987+24994A>G | |
| XM_011522435.1:c.2116+24994A>G | XP_011520737.1:n.2116+24994A>G | |
| XM_011522436.1:c.2116+24994A>G | XP_011520738.1:n.2116+24994A>G | |
| XM_011522437.1:c.2116+24994A>G | XP_011520739.1:n.2116+24994A>G | |
| XM_011522438.1:c.2116+24994A>G | XP_011520740.1:n.2116+24994A>G | |
| XM_011522439.1:c.2116+24994A>G | XP_011520741.1:n.2116+24994A>G | |
| XM_011522440.1:c.2116+24994A>G | XP_011520742.1:n.2116+24994A>G | |
| XR_932810.1:n.2340+24994A>G | ||
| XM_005255210.2:c.2110+24994A>G | XP_005255267.1:n.2110+24994A>G | |
| XM_005255211.2:c.2068+24994A>G | XP_005255268.1:n.2068+24994A>G | |
| XM_005255213.2:c.2062+24994A>G | XP_005255270.1:n.2062+24994A>G | |
| XM_005255214.2:c.2116+24994A>G | XP_005255271.1:n.2116+24994A>G | |
| XM_005255215.4:c.2116+24994A>G | XP_005255272.1:n.2116+24994A>G | |
| XM_005255216.2:c.2116+24994A>G | XP_005255273.1:n.2116+24994A>G | |
| XM_011522434.2:c.1987+24994A>G | XP_011520736.1:n.1987+24994A>G | |
| XM_011522435.2:c.2116+24994A>G | XP_011520737.1:n.2116+24994A>G | |
| XM_011522436.3:c.2116+24994A>G | XP_011520738.1:n.2116+24994A>G | |
| XM_011522437.3:c.2116+24994A>G | XP_011520739.1:n.2116+24994A>G | |
| XM_011522438.3:c.2116+24994A>G | XP_011520740.1:n.2116+24994A>G | |
| XM_011522439.3:c.2116+24994A>G | XP_011520741.1:n.2116+24994A>G | |
| XM_011522440.3:c.2116+24994A>G | XP_011520742.1:n.2116+24994A>G | |
| XM_017023090.2:c.601+24994A>G | XP_016878579.1:n.601+24994A>G | |
| XM_024450218.1:c.2068+24994A>G | XP_024305986.1:n.2068+24994A>G | |
| XM_024450219.1:c.667+24994A>G | XP_024305987.1:n.667+24994A>G | |
| XR_932810.3:n.2295+24994A>G | ||
| NM_015226.3:c.2116+24994A>G MANE Select | NP_056041.1:n.2116+24994A>G | |
| NM_001243403.2:c.2062+24994A>G | NP_001230332.1:n.2062+24994A>G |