Linked Data
ClinVar Variation Id:
1078730
ClinVar RCV Id:
RCV001393761
dbSNP Id:
rs1052146446
gnomAD v4:
16-9938051-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9938051A>G , CM000678.2:g.9938051A>G | GRCh38 |
| NC_000016.9:g.10031908A>G , CM000678.1:g.10031908A>G | GRCh37 |
| NC_000016.8:g.9939409A>G | NCBI36 |
| NG_011812.1:g.249704T>C | |
| NG_011812.2:g.249704T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.915T>C MANE Select | ENSP00000332549.3:p.Ser305= | |
| ENST00000535259.6:c.444T>C | ENSP00000441572.3:p.Ser148= | |
| ENST00000636273.2:n.508T>C | ||
| ENST00000637393.1:c.507T>C | ENSP00000490232.1:p.Ser169= | |
| ENST00000674742.1:c.444T>C | ENSP00000502200.1:p.Ser148= | |
| ENST00000675189.1:n.1399T>C | ||
| ENST00000675398.1:c.915T>C | ENSP00000502752.1:p.Ser305= | |
| ENST00000330684.3:c.915T>C | ENSP00000332549.3:p.Ser305= | |
| ENST00000396573.6:c.915T>C | ENSP00000379818.2:p.Ser305= | |
| ENST00000396575.6:c.504T>C | ENSP00000379820.3:p.Ser168= | |
| ENST00000461292.3:n.554T>C | ||
| ENST00000535259.5:c.504T>C | ENSP00000441572.2:p.Ser168= | |
| ENST00000562109.5:c.915T>C | ENSP00000454998.1:p.Ser305= | |
| ENST00000566683.1:n.241-46951T>C | ||
| ENST00000568247.3:n.807T>C | ||
| NM_000833.4:c.915T>C | NP_000824.1:p.Ser305= | |
| NM_001134407.2:c.915T>C | NP_001127879.1:p.Ser305= | |
| NM_001134408.2:c.915T>C | NP_001127880.1:p.Ser305= | |
| XM_011522456.1:c.756T>C | XP_011520758.1:p.Ser252= | |
| XM_011522457.1:c.657T>C | XP_011520759.1:p.Ser219= | |
| XM_011522458.1:c.444T>C | XP_011520760.1:p.Ser148= | |
| XM_011522459.1:c.444T>C | XP_011520761.1:p.Ser148= | |
| XM_011522460.1:c.444T>C | XP_011520762.1:p.Ser148= | |
| XM_011522461.1:c.915T>C | XP_011520763.1:p.Ser305= | |
| XM_011522458.3:c.444T>C | XP_011520760.1:p.Ser148= | |
| XM_011522461.3:c.915T>C | XP_011520763.1:p.Ser305= | |
| XM_017023172.1:c.1071T>C | XP_016878661.1:p.Ser357= | |
| XM_017023173.1:c.1071T>C | XP_016878662.1:p.Ser357= | |
| NM_001134407.3:c.915T>C MANE Select | NP_001127879.1:p.Ser305= | |
| NM_000833.5:c.915T>C | NP_000824.1:p.Ser305= |