Linked Data
ClinVar Variation Id:
1249895
ClinVar RCV Id:
RCV001650031
dbSNP Id:
rs130002
gnomAD v2:
16-3827931-T-C
gnomAD v3:
16-3777930-T-C
gnomAD v4:
16-3777930-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3777930T>C , CM000678.2:g.3777930T>C | GRCh38 |
| NC_000016.9:g.3827931T>C , CM000678.1:g.3827931T>C | GRCh37 |
| NC_000016.8:g.3767932T>C | NCBI36 |
| NG_009873.1:g.107191A>G | |
| NG_009873.2:g.107784A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.2113+81A>G MANE Select | ENSP00000262367.5:n.2113+81A>G | |
| ENST00000262367.9:c.2113+81A>G | ENSP00000262367.5:n.2113+81A>G | |
| ENST00000382070.7:c.1999+81A>G | ENSP00000371502.3:n.1999+81A>G | |
| ENST00000570939.2:c.718+81A>G | ENSP00000461002.2:n.718+81A>G | |
| ENST00000571826.5:c.162+81A>G | ||
| ENST00000572134.1:c.426+81A>G | ||
| NM_001079846.1:c.1999+81A>G | NP_001073315.1:n.1999+81A>G | |
| NM_004380.2:c.2113+81A>G | NP_004371.2:n.2113+81A>G | |
| XM_005255124.3:c.2113+81A>G | XP_005255181.1:n.2113+81A>G | |
| XM_005255125.3:c.2113+81A>G | XP_005255182.1:n.2113+81A>G | |
| XM_006720848.2:c.2113+81A>G | XP_006720911.1:n.2113+81A>G | |
| XM_011522380.1:c.2059+81A>G | XP_011520682.1:n.2059+81A>G | |
| XM_011522381.1:c.1360+81A>G | XP_011520683.1:n.1360+81A>G | |
| XM_011522382.1:c.2113+81A>G | XP_011520684.1:n.2113+81A>G | |
| XM_005255124.4:c.2113+81A>G | XP_005255181.1:n.2113+81A>G | |
| XM_005255125.4:c.2113+81A>G | XP_005255182.1:n.2113+81A>G | |
| XM_006720848.3:c.2113+81A>G | XP_006720911.1:n.2113+81A>G | |
| XM_011522381.2:c.1360+81A>G | XP_011520683.1:n.1360+81A>G | |
| XM_011522382.3:c.2113+81A>G | XP_011520684.1:n.2113+81A>G | |
| XM_017022944.1:c.2113+81A>G | XP_016878433.1:n.2113+81A>G | |
| NM_004380.3:c.2113+81A>G MANE Select | NP_004371.2:n.2113+81A>G |