Linked Data
ClinVar Variation Id:
95054
dbSNP Id:
rs61731405
ExAC:
16:3779612 G / C
gnomAD v2:
16-3779612-G-C
gnomAD v3:
16-3729611-G-C
gnomAD v4:
16-3729611-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729611G>C , CM000678.2:g.3729611G>C | GRCh38 |
| NC_000016.9:g.3779612G>C , CM000678.1:g.3779612G>C | GRCh37 |
| NC_000016.8:g.3719613G>C | NCBI36 |
| NG_009873.1:g.155510C>G | |
| NG_009873.2:g.156103C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5436C>G MANE Select | ENSP00000262367.5:p.Thr1812= | |
| ENST00000262367.9:c.5436C>G | ENSP00000262367.5:p.Thr1812= | |
| ENST00000382070.7:c.5322C>G | ENSP00000371502.3:p.Thr1774= | |
| NM_001079846.1:c.5322C>G | NP_001073315.1:p.Thr1774= | |
| NM_004380.2:c.5436C>G | NP_004371.2:p.Thr1812= | |
| XM_005255124.3:c.5391C>G | XP_005255181.1:p.Thr1797= | |
| XM_005255125.3:c.5019C>G | XP_005255182.1:p.Thr1673= | |
| XM_006720848.2:c.5175C>G | XP_006720911.1:p.Thr1725= | |
| XM_011522380.1:c.5382C>G | XP_011520682.1:p.Thr1794= | |
| XM_011522381.1:c.4683C>G | XP_011520683.1:p.Thr1561= | |
| XM_005255124.4:c.5391C>G | XP_005255181.1:p.Thr1797= | |
| XM_005255125.4:c.5019C>G | XP_005255182.1:p.Thr1673= | |
| XM_006720848.3:c.5175C>G | XP_006720911.1:p.Thr1725= | |
| XM_011522381.2:c.4683C>G | XP_011520683.1:p.Thr1561= | |
| XM_017022944.1:c.5430C>G | XP_016878433.1:p.Thr1810= | |
| NM_004380.3:c.5436C>G MANE Select | NP_004371.2:p.Thr1812= |