Revel Score:
ENST00000324727 (MANE Select)
0.655
ENST00000529878
0.655
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017152 (NFE)
Genomes Max Group AF
0.00007907 (NFE)
Exomes Max Group AF
0.00017384 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118137097G>A , CM000673.2:g.118137097G>A | GRCh38 |
| NC_000011.9:g.118007812G>A , CM000673.1:g.118007812G>A | GRCh37 |
| NC_000011.8:g.117513022G>A | NCBI36 |
| NG_011710.1:g.20819C>T , LRG_330:g.20819C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.617C>T MANE Select | ENSP00000322460.4:p.Ser206Leu | |
| ENST00000324727.8:c.617C>T | ENSP00000322460.4:p.Ser206Leu | |
| ENST00000415030.6:n.760C>T | ||
| ENST00000423160.2:n.251C>T | ||
| ENST00000529878.1:c.215C>T | ENSP00000436343.1:p.Ser72Leu | |
| ENST00000531550.1:n.682C>T | ||
| NM_001142348.1:c.215C>T | NP_001135820.1:p.Ser72Leu | |
| NM_001142349.1:c.287C>T | NP_001135821.1:p.Ser96Leu | |
| NM_174934.3:c.617C>T , LRG_330t1:c.617C>T | NP_777594.1:p.Ser206Leu | |
| NR_024527.1:n.642C>T | ||
| NM_001142348.2:c.215C>T | NP_001135820.1:p.Ser72Leu | |
| NM_001142349.2:c.287C>T | NP_001135821.1:p.Ser96Leu | |
| NR_024527.2:n.606C>T | ||
| NM_174934.4:c.617C>T MANE Select | NP_777594.1:p.Ser206Leu |