Linked Data
ClinVar Variation Id:
137506
dbSNP Id:
rs78241448
ExAC:
16:10031920 G / A
gnomAD v2:
16-10031920-G-A
gnomAD v3:
16-9938063-G-A
gnomAD v4:
16-9938063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9938063G>A , CM000678.2:g.9938063G>A | GRCh38 |
| NC_000016.9:g.10031920G>A , CM000678.1:g.10031920G>A | GRCh37 |
| NC_000016.8:g.9939421G>A | NCBI36 |
| NG_011812.1:g.249692C>T | |
| NG_011812.2:g.249692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.903C>T MANE Select | ENSP00000332549.3:p.Thr301= | |
| ENST00000535259.6:c.432C>T | ENSP00000441572.3:p.Thr144= | |
| ENST00000636273.2:n.496C>T | ||
| ENST00000637393.1:c.495C>T | ENSP00000490232.1:p.Thr165= | |
| ENST00000674742.1:c.432C>T | ENSP00000502200.1:p.Thr144= | |
| ENST00000675189.1:n.1387C>T | ||
| ENST00000675398.1:c.903C>T | ENSP00000502752.1:p.Thr301= | |
| ENST00000330684.3:c.903C>T | ENSP00000332549.3:p.Thr301= | |
| ENST00000396573.6:c.903C>T | ENSP00000379818.2:p.Thr301= | |
| ENST00000396575.6:c.492C>T | ENSP00000379820.3:p.Thr164= | |
| ENST00000461292.3:n.542C>T | ||
| ENST00000535259.5:c.492C>T | ENSP00000441572.2:p.Thr164= | |
| ENST00000562109.5:c.903C>T | ENSP00000454998.1:p.Thr301= | |
| ENST00000566683.1:n.241-46963C>T | ||
| ENST00000568247.3:n.795C>T | ||
| NM_000833.4:c.903C>T | NP_000824.1:p.Thr301= | |
| NM_001134407.2:c.903C>T | NP_001127879.1:p.Thr301= | |
| NM_001134408.2:c.903C>T | NP_001127880.1:p.Thr301= | |
| XM_011522456.1:c.744C>T | XP_011520758.1:p.Thr248= | |
| XM_011522457.1:c.645C>T | XP_011520759.1:p.Thr215= | |
| XM_011522458.1:c.432C>T | XP_011520760.1:p.Thr144= | |
| XM_011522459.1:c.432C>T | XP_011520761.1:p.Thr144= | |
| XM_011522460.1:c.432C>T | XP_011520762.1:p.Thr144= | |
| XM_011522461.1:c.903C>T | XP_011520763.1:p.Thr301= | |
| XM_011522458.3:c.432C>T | XP_011520760.1:p.Thr144= | |
| XM_011522461.3:c.903C>T | XP_011520763.1:p.Thr301= | |
| XM_017023172.1:c.1059C>T | XP_016878661.1:p.Thr353= | |
| XM_017023173.1:c.1059C>T | XP_016878662.1:p.Thr353= | |
| NM_001134407.3:c.903C>T MANE Select | NP_001127879.1:p.Thr301= | |
| NM_000833.5:c.903C>T | NP_000824.1:p.Thr301= |