Revel Score:
ENST00000340855 (MANE Select)
0.324
ENST00000541269
0.324
ENST00000370441
0.324
ENST00000370443
0.324
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04679886 (AFR)
Genomes Max Group AF
0.04479509 (AFR)
Exomes Max Group AF
0.04780528 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149498174G>A , CM000685.2:g.149498174G>A | GRCh38 |
| NC_000023.10:g.148579705G>A , CM000685.1:g.148579705G>A | GRCh37 |
| NC_000023.9:g.148387610G>A | NCBI36 |
| NG_011900.3:g.12161C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.641C>T MANE Select | ENSP00000339801.6:p.Thr214Met | |
| ENST00000651111.1:c.8C>T | ENSP00000498395.1:p.Thr3Met | |
| ENST00000340855.10:c.641C>T | ENSP00000339801.6:p.Thr214Met | |
| ENST00000370441.8:c.641C>T | ENSP00000359470.4:p.Thr214Met | |
| ENST00000422081.6:c.8C>T | ENSP00000477056.1:p.Thr3Met | |
| ENST00000441880.1:n.114-11076C>T | ||
| ENST00000464251.5:c.567C>T | ENSP00000428980.1:n.567C>T | |
| ENST00000466019.1:n.93C>T | ||
| ENST00000466323.5:c.641C>T | ENSP00000418264.1:p.Thr214Met | |
| ENST00000490775.5:n.426C>T | ||
| NM_000202.6:c.641C>T | NP_000193.1:p.Thr214Met | |
| NM_001166550.2:c.371C>T | NP_001160022.1:p.Thr124Met | |
| NM_006123.4:c.641C>T | NP_006114.1:p.Thr214Met | |
| NR_104128.1:n.858C>T | ||
| NM_000202.7:c.641C>T | NP_000193.1:p.Thr214Met | |
| NM_001166550.3:c.371C>T | NP_001160022.1:p.Thr124Met | |
| NM_000202.8:c.641C>T MANE Select | NP_000193.1:p.Thr214Met | |
| NM_001166550.4:c.371C>T | NP_001160022.1:p.Thr124Met | |
| NM_006123.5:c.641C>T | NP_006114.1:p.Thr214Met | |
| NR_104128.2:n.810C>T |