Revel Score:
ENST00000397231
0.148
ENST00000216181 (MANE Select)
0.428
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020674 (AMR)
Genomes Max Group AF
0.00040296 (AMR)
Exomes Max Group AF
0.00008861 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36292083G>A , CM000684.2:g.36292083G>A | GRCh38 |
| NC_000022.10:g.36688129G>A , CM000684.1:g.36688129G>A | GRCh37 |
| NC_000022.9:g.35018075G>A | NCBI36 |
| NG_011884.2:g.100936C>T , LRG_567:g.100936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685801.1:c.4310C>T | ENSP00000510688.1:p.Thr1437Met | |
| ENST00000691109.1:n.4542C>T | ||
| ENST00000216181.11:c.4247C>T MANE Select | ENSP00000216181.6:p.Thr1416Met | |
| ENST00000216181.9:c.4247C>T | ENSP00000216181.5:p.Thr1416Met | |
| NM_002473.5:c.4247C>T , LRG_567t1:c.4247C>T | NP_002464.1:p.Thr1416Met | |
| XM_011530197.1:c.4247C>T | XP_011528499.1:p.Thr1416Met | |
| XM_011530197.2:c.4247C>T | XP_011528499.1:p.Thr1416Met | |
| XM_017028803.1:c.4247C>T | XP_016884292.1:p.Thr1416Met | |
| XM_017028804.1:c.4247C>T | XP_016884293.1:p.Thr1416Met | |
| XM_017028805.1:c.4247C>T | XP_016884294.1:p.Thr1416Met | |
| XM_017028806.1:c.4247C>T | XP_016884295.1:p.Thr1416Met | |
| NM_002473.6:c.4247C>T MANE Select | NP_002464.1:p.Thr1416Met |