Linked Data
ClinVar Variation Id:
2420096
ClinVar RCV Id:
RCV003118621
dbSNP Id:
rs745533052
ExAC:
16:3778079 T / C
gnomAD v2:
16-3778079-T-C
gnomAD v3:
16-3728078-T-C
gnomAD v4:
16-3728078-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728078T>C , CM000678.2:g.3728078T>C | GRCh38 |
| NC_000016.9:g.3778079T>C , CM000678.1:g.3778079T>C | GRCh37 |
| NC_000016.8:g.3718080T>C | NCBI36 |
| NG_009873.1:g.157043A>G | |
| NG_009873.2:g.157636A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6969A>G MANE Select | ENSP00000262367.5:p.Gly2323= | |
| ENST00000262367.9:c.6969A>G | ENSP00000262367.5:p.Gly2323= | |
| ENST00000382070.7:c.6855A>G | ENSP00000371502.3:p.Gly2285= | |
| NM_001079846.1:c.6855A>G | NP_001073315.1:p.Gly2285= | |
| NM_004380.2:c.6969A>G | NP_004371.2:p.Gly2323= | |
| XM_005255124.3:c.6924A>G | XP_005255181.1:p.Gly2308= | |
| XM_005255125.3:c.6552A>G | XP_005255182.1:p.Gly2184= | |
| XM_006720848.2:c.6708A>G | XP_006720911.1:p.Gly2236= | |
| XM_011522380.1:c.6915A>G | XP_011520682.1:p.Gly2305= | |
| XM_011522381.1:c.6216A>G | XP_011520683.1:p.Gly2072= | |
| XM_005255124.4:c.6924A>G | XP_005255181.1:p.Gly2308= | |
| XM_005255125.4:c.6552A>G | XP_005255182.1:p.Gly2184= | |
| XM_006720848.3:c.6708A>G | XP_006720911.1:p.Gly2236= | |
| XM_011522381.2:c.6216A>G | XP_011520683.1:p.Gly2072= | |
| XM_017022944.1:c.6963A>G | XP_016878433.1:p.Gly2321= | |
| NM_004380.3:c.6969A>G MANE Select | NP_004371.2:p.Gly2323= |