COSMIC:
COSM445087 (not active)
Revel Score:
ENST00000396265
0.219
ENST00000337554 (MANE Select)
0.161
ENST00000329563
0.161
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96364914 (EAS)
Genomes Max Group AF
0.94710517 (EAS)
Exomes Max Group AF
0.96339844 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162920A>G , CM000684.2:g.43162920A>G | GRCh38 |
| NC_000022.10:g.43558926A>G , CM000684.1:g.43558926A>G | GRCh37 |
| NC_000022.9:g.41888870A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.439A>G MANE Select | ENSP00000338004.3:p.Thr147Ala | |
| ENST00000329563.8:c.439A>G | ENSP00000328973.4:p.Thr147Ala | |
| ENST00000337554.7:c.439A>G | ENSP00000338004.3:p.Thr147Ala | |
| ENST00000396265.4:c.439A>G | ENSP00000379563.4:p.Thr147Ala | |
| ENST00000583777.5:c.127A>G | ENSP00000463495.1:p.Thr43Ala | |
| NM_000714.5:c.439A>G | NP_000705.2:p.Thr147Ala | |
| NM_001256530.1:c.439A>G | NP_001243459.1:p.Thr147Ala | |
| NM_001256531.1:c.439A>G | NP_001243460.1:p.Thr147Ala | |
| NR_046308.1:n.348A>G | ||
| NM_000714.6:c.439A>G MANE Select | NP_000705.2:p.Thr147Ala | |
| NR_046308.2:n.303A>G |