Linked Data
ClinVar Variation Id:
2802830
ClinVar RCV Id:
RCV003741607
dbSNP Id:
rs781405112
ExAC:
16:10031896 C / T
gnomAD v2:
16-10031896-C-T
gnomAD v4:
16-9938039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9938039C>T , CM000678.2:g.9938039C>T | GRCh38 |
| NC_000016.9:g.10031896C>T , CM000678.1:g.10031896C>T | GRCh37 |
| NC_000016.8:g.9939397C>T | NCBI36 |
| NG_011812.1:g.249716G>A | |
| NG_011812.2:g.249716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.927G>A MANE Select | ENSP00000332549.3:p.Lys309= | |
| ENST00000535259.6:c.456G>A | ENSP00000441572.3:p.Lys152= | |
| ENST00000636273.2:n.520G>A | ||
| ENST00000637393.1:c.519G>A | ENSP00000490232.1:p.Lys173= | |
| ENST00000674742.1:c.456G>A | ENSP00000502200.1:p.Lys152= | |
| ENST00000675189.1:n.1411G>A | ||
| ENST00000675398.1:c.927G>A | ENSP00000502752.1:p.Lys309= | |
| ENST00000330684.3:c.927G>A | ENSP00000332549.3:p.Lys309= | |
| ENST00000396573.6:c.927G>A | ENSP00000379818.2:p.Lys309= | |
| ENST00000396575.6:c.516G>A | ENSP00000379820.3:p.Lys172= | |
| ENST00000461292.3:n.566G>A | ||
| ENST00000535259.5:c.516G>A | ENSP00000441572.2:p.Lys172= | |
| ENST00000562109.5:c.927G>A | ENSP00000454998.1:p.Lys309= | |
| ENST00000566683.1:n.241-46939G>A | ||
| ENST00000568247.3:n.819G>A | ||
| NM_000833.4:c.927G>A | NP_000824.1:p.Lys309= | |
| NM_001134407.2:c.927G>A | NP_001127879.1:p.Lys309= | |
| NM_001134408.2:c.927G>A | NP_001127880.1:p.Lys309= | |
| XM_011522456.1:c.768G>A | XP_011520758.1:p.Lys256= | |
| XM_011522457.1:c.669G>A | XP_011520759.1:p.Lys223= | |
| XM_011522458.1:c.456G>A | XP_011520760.1:p.Lys152= | |
| XM_011522459.1:c.456G>A | XP_011520761.1:p.Lys152= | |
| XM_011522460.1:c.456G>A | XP_011520762.1:p.Lys152= | |
| XM_011522461.1:c.927G>A | XP_011520763.1:p.Lys309= | |
| XM_011522458.3:c.456G>A | XP_011520760.1:p.Lys152= | |
| XM_011522461.3:c.927G>A | XP_011520763.1:p.Lys309= | |
| XM_017023172.1:c.1083G>A | XP_016878661.1:p.Lys361= | |
| XM_017023173.1:c.1083G>A | XP_016878662.1:p.Lys361= | |
| NM_001134407.3:c.927G>A MANE Select | NP_001127879.1:p.Lys309= | |
| NM_000833.5:c.927G>A | NP_000824.1:p.Lys309= |