Linked Data
ClinVar Variation Id:
2905390
ClinVar RCV Id:
RCV003760402
dbSNP Id:
rs368907608
ExAC:
16:3860601 T / C
gnomAD v2:
16-3860601-T-C
gnomAD v3:
16-3810600-T-C
gnomAD v4:
16-3810600-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3810600T>C , CM000678.2:g.3810600T>C | GRCh38 |
| NC_000016.9:g.3860601T>C , CM000678.1:g.3860601T>C | GRCh37 |
| NC_000016.8:g.3800602T>C | NCBI36 |
| NG_009873.1:g.74521A>G | |
| NG_009873.2:g.75114A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.975+3A>G MANE Select | ENSP00000262367.5:n.975+3A>G | |
| ENST00000262367.9:c.975+3A>G | ENSP00000262367.5:n.975+3A>G | |
| ENST00000382070.7:c.975+3A>G | ENSP00000371502.3:n.975+3A>G | |
| NM_001079846.1:c.975+3A>G | NP_001073315.1:n.975+3A>G | |
| NM_004380.2:c.975+3A>G | NP_004371.2:n.975+3A>G | |
| XM_005255124.3:c.975+3A>G | XP_005255181.1:n.975+3A>G | |
| XM_005255125.3:c.975+3A>G | XP_005255182.1:n.975+3A>G | |
| XM_006720848.2:c.975+3A>G | XP_006720911.1:n.975+3A>G | |
| XM_011522380.1:c.921+3A>G | XP_011520682.1:n.921+3A>G | |
| XM_011522381.1:c.222+3A>G | XP_011520683.1:n.222+3A>G | |
| XM_011522382.1:c.975+3A>G | XP_011520684.1:n.975+3A>G | |
| XM_005255124.4:c.975+3A>G | XP_005255181.1:n.975+3A>G | |
| XM_005255125.4:c.975+3A>G | XP_005255182.1:n.975+3A>G | |
| XM_006720848.3:c.975+3A>G | XP_006720911.1:n.975+3A>G | |
| XM_011522381.2:c.222+3A>G | XP_011520683.1:n.222+3A>G | |
| XM_011522382.3:c.975+3A>G | XP_011520684.1:n.975+3A>G | |
| XM_017022944.1:c.975+3A>G | XP_016878433.1:n.975+3A>G | |
| NM_004380.3:c.975+3A>G MANE Select | NP_004371.2:n.975+3A>G |