Revel Score:
ENST00000324727 (MANE Select)
0.753
ENST00000529878
0.753
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007732 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00007281 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118141318G>C , CM000673.2:g.118141318G>C | GRCh38 |
| NC_000011.9:g.118012033G>C , CM000673.1:g.118012033G>C | GRCh37 |
| NC_000011.8:g.117517243G>C | NCBI36 |
| NG_011710.1:g.16598C>G , LRG_330:g.16598C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.482C>G MANE Select | ENSP00000322460.4:p.Thr161Arg | |
| ENST00000324727.8:c.482C>G | ENSP00000322460.4:p.Thr161Arg | |
| ENST00000415030.6:n.625C>G | ||
| ENST00000423160.2:n.116C>G | ||
| ENST00000529878.1:c.80C>G | ENSP00000436343.1:p.Thr27Arg | |
| ENST00000531550.1:n.547C>G | ||
| ENST00000532138.1:n.738C>G | ||
| NM_001142348.1:c.80C>G | NP_001135820.1:p.Thr27Arg | |
| NM_001142349.1:c.152C>G | NP_001135821.1:p.Thr51Arg | |
| NM_174934.3:c.482C>G , LRG_330t1:c.482C>G | NP_777594.1:p.Thr161Arg | |
| NR_024527.1:n.507C>G | ||
| NM_001142348.2:c.80C>G | NP_001135820.1:p.Thr27Arg | |
| NM_001142349.2:c.152C>G | NP_001135821.1:p.Thr51Arg | |
| NR_024527.2:n.471C>G | ||
| NM_174934.4:c.482C>G MANE Select | NP_777594.1:p.Thr161Arg |