Linked Data
ClinVar Variation Id:
1289494
dbSNP Id:
rs2276047
ExAC:
11:71941381 A / G
gnomAD v2:
11-71941381-A-G
gnomAD v3:
11-72230337-A-G
gnomAD v4:
11-72230337-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72230337A>G , CM000673.2:g.72230337A>G | GRCh38 |
| NC_000011.9:g.71941381A>G , CM000673.1:g.71941381A>G | GRCh37 |
| NC_000011.8:g.71619029A>G | NCBI36 |
| NG_023253.1:g.10500A>G | |
| NG_023253.2:g.10500A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298229.7:c.1091-25A>G MANE Select | ENSP00000298229.2:n.1091-25A>G | |
| ENST00000298229.6:c.1091-25A>G | ENSP00000298229.2:n.1091-25A>G | |
| ENST00000538751.5:c.365-25A>G | ENSP00000444619.1:n.365-25A>G | |
| ENST00000540329.5:c.275-25A>G | ENSP00000440018.1:n.275-25A>G | |
| ENST00000541756.5:c.893-25A>G | ENSP00000446360.2:n.893-25A>G | |
| NM_001567.3:c.1091-25A>G | NP_001558.3:n.1091-25A>G | |
| XM_005273978.3:c.1157-25A>G | XP_005274035.1:n.1157-25A>G | |
| XM_005273979.3:c.1157-25A>G | XP_005274036.1:n.1157-25A>G | |
| XM_011544999.1:c.1091-25A>G | XP_011543301.1:n.1091-25A>G | |
| XM_011545000.1:c.1157-25A>G | XP_011543302.1:n.1157-25A>G | |
| XM_005273979.4:c.1157-25A>G | XP_005274036.1:n.1157-25A>G | |
| XM_011544999.2:c.1091-25A>G | XP_011543301.1:n.1091-25A>G | |
| XM_024448501.1:c.1157-25A>G | XP_024304269.1:n.1157-25A>G | |
| XM_024448502.1:c.1157-25A>G | XP_024304270.1:n.1157-25A>G | |
| XM_024448503.1:c.1127-25A>G | XP_024304271.1:n.1127-25A>G | |
| XM_024448504.1:c.1091-25A>G | XP_024304272.1:n.1091-25A>G | |
| XM_024448505.1:c.1157-25A>G | XP_024304273.1:n.1157-25A>G | |
| NM_001567.4:c.1091-25A>G MANE Select | NP_001558.3:n.1091-25A>G |