Linked Data
ClinVar Variation Id:
446035
ClinVar RCV Id:
RCV000513934
dbSNP Id:
rs113844295
ExAC:
4:107249319 A / G
gnomAD v2:
4-107249319-A-G
gnomAD v3:
4-106328162-A-G
gnomAD v4:
4-106328162-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106328162A>G , CM000666.2:g.106328162A>G | GRCh38 |
| NC_000004.11:g.107249319A>G , CM000666.1:g.107249319A>G | GRCh37 |
| NC_000004.10:g.107468768A>G | NCBI36 |
| NG_028166.1:g.17553A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394701.6:c.40A>G | ENSP00000378191.5:p.Thr14Ala | |
| ENST00000442366.6:c.223+598A>G | ENSP00000405248.2:n.223+598A>G | |
| ENST00000673381.2:n.1371A>G | ||
| ENST00000683179.1:n.735A>G | ||
| ENST00000684504.1:c.310A>G | ENSP00000507352.1:p.Thr104Ala | |
| ENST00000394701.5:c.382A>G | ENSP00000378191.4:p.Thr128Ala | |
| ENST00000671868.1:c.310A>G | ENSP00000499850.1:p.Thr104Ala | |
| ENST00000671960.1:c.310A>G | ENSP00000500025.1:p.Thr104Ala | |
| ENST00000672003.1:c.310A>G | ENSP00000500187.1:p.Thr104Ala | |
| ENST00000672285.1:c.310A>G | ENSP00000500668.1:p.Thr104Ala | |
| ENST00000672328.1:c.310A>G | ENSP00000500159.1:p.Thr104Ala | |
| ENST00000672337.1:c.310A>G | ENSP00000499921.1:p.Thr104Ala | |
| ENST00000672341.1:c.310A>G MANE Select | ENSP00000500620.1:p.Thr104Ala | |
| ENST00000672911.1:c.310A>G | ENSP00000500170.1:p.Thr104Ala | |
| ENST00000673018.1:c.310A>G | ENSP00000500732.1:p.Thr104Ala | |
| ENST00000673123.1:c.310A>G | ENSP00000500794.1:p.Thr104Ala | |
| ENST00000673381.1:n.1371A>G | ||
| ENST00000358008.7:c.310A>G | ENSP00000350699.3:p.Thr104Ala | |
| ENST00000394701.4:c.382A>G | ENSP00000378191.4:p.Thr128Ala | |
| ENST00000442366.5:c.310A>G | ENSP00000405248.1:p.Thr104Ala | |
| ENST00000510207.5:c.310A>G | ENSP00000423681.1:p.Thr104Ala | |
| NM_001142415.1:c.310A>G | NP_001135887.1:p.Thr104Ala | |
| NM_001142416.1:c.382A>G | NP_001135888.1:p.Thr128Ala | |
| NM_004757.3:c.310A>G | NP_004748.2:p.Thr104Ala | |
| XM_017008835.2:c.310A>G | XP_016864324.1:p.Thr104Ala | |
| XM_017008836.2:c.310A>G | XP_016864325.1:p.Thr104Ala | |
| NM_001142416.2:c.310A>G MANE Select | NP_001135888.2:p.Thr104Ala | |
| NM_001142415.2:c.310A>G | NP_001135887.1:p.Thr104Ala | |
| NM_004757.4:c.310A>G | NP_004748.2:p.Thr104Ala |