COSMIC:
COSM150834 (not active)
COSM150835 (not active)
Revel Score:
ENST00000218316 (MANE Select)
0.076
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52202864 (AMR)
Genomes Max Group AF
0.50079071 (AFR)
Exomes Max Group AF
0.52573607 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151181177A>G , CM000685.2:g.151181177A>G | GRCh38 |
| NC_000023.10:g.150349649A>G , CM000685.1:g.150349649A>G | GRCh37 |
| NC_000023.9:g.150100307A>G | NCBI36 |
| NG_016405.1:g.9594A>G | |
| NG_016405.2:g.9594A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.1594A>G MANE Select | ENSP00000218316.3:p.Thr532Ala | |
| ENST00000218316.3:c.1594A>G | ENSP00000218316.3:p.Thr532Ala | |
| ENST00000617907.1:c.1588A>G | ENSP00000484496.1:p.Thr530Ala | |
| NM_004224.3:c.1594A>G MANE Select | NP_004215.2:p.Thr532Ala | |
| XM_011531216.1:c.853A>G | XP_011529518.1:p.Thr285Ala | |
| XM_011531216.2:c.853A>G | XP_011529518.1:p.Thr285Ala |