Revel Score:
ENST00000265433 (MANE Select)
0.012
ENST00000409330
0.012
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018018 (AMR)
Genomes Max Group AF
0.00021539 (AMR)
Exomes Max Group AF
0.00012069 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89953635G>A , CM000670.2:g.89953635G>A | GRCh38 |
| NC_000008.10:g.90965863G>A , CM000670.1:g.90965863G>A | GRCh37 |
| NC_000008.9:g.91035039G>A | NCBI36 |
| NG_008860.1:g.36037C>T , LRG_158:g.36037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2756C>T | ||
| ENST00000517337.2:c.1208C>T | ENSP00000429971.2:p.Thr403Met | |
| ENST00000523444.2:c.1208C>T | ENSP00000428252.2:p.Thr403Met | |
| ENST00000697292.1:c.1454C>T | ENSP00000513229.1:p.Thr485Met | |
| ENST00000697293.1:c.1454C>T | ENSP00000513230.1:p.Thr485Met | |
| ENST00000697294.1:c.*1065C>T | ENSP00000513231.1:n.*1065C>T | |
| ENST00000697295.1:c.*763C>T | ENSP00000513232.1:n.*763C>T | |
| ENST00000697296.1:c.*1122C>T | ENSP00000513233.1:n.*1122C>T | |
| ENST00000697297.1:n.3239C>T | ||
| ENST00000697298.1:c.1208C>T | ENSP00000513234.1:p.Thr403Met | |
| ENST00000697299.1:c.1208C>T | ENSP00000513235.1:p.Thr403Met | |
| ENST00000697300.1:c.*1058C>T | ENSP00000513236.1:n.*1058C>T | |
| ENST00000697301.1:c.*975C>T | ENSP00000513237.1:n.*975C>T | |
| ENST00000697302.1:c.*975C>T | ENSP00000513238.1:n.*975C>T | |
| ENST00000697303.1:c.*1058C>T | ENSP00000513239.1:n.*1058C>T | |
| ENST00000697304.1:c.1142C>T | ENSP00000513240.1:p.Thr381Met | |
| ENST00000697306.1:c.*454C>T | ENSP00000513241.1:n.*454C>T | |
| ENST00000697307.1:c.1454C>T | ENSP00000513242.1:p.Thr485Met | |
| ENST00000697308.1:c.1454C>T | ENSP00000513243.1:p.Thr485Met | |
| ENST00000697309.1:c.1454C>T | ENSP00000513244.1:p.Thr485Met | |
| ENST00000697310.1:c.1454C>T | ENSP00000513245.1:p.Thr485Met | |
| ENST00000697311.1:c.1454C>T | ENSP00000513246.1:p.Thr485Met | |
| ENST00000697312.1:c.*852C>T | ENSP00000513247.1:n.*852C>T | |
| ENST00000697313.1:n.2687+16729C>T | ||
| ENST00000697314.1:n.3245C>T | ||
| ENST00000697315.1:c.1454C>T | ENSP00000513248.1:p.Thr485Met | |
| ENST00000697316.1:n.1575C>T | ||
| ENST00000697317.1:n.1564C>T | ||
| ENST00000697318.1:n.1566C>T | ||
| ENST00000265433.8:c.1454C>T MANE Select | ENSP00000265433.4:p.Thr485Met | |
| ENST00000265433.7:c.1454C>T | ENSP00000265433.3:p.Thr485Met | |
| ENST00000396252.6:c.*1327C>T | ENSP00000379551.2:n.*1327C>T | |
| ENST00000409330.5:c.1208C>T | ENSP00000386924.1:p.Thr403Met | |
| NM_001024688.2:c.1208C>T | NP_001019859.1:p.Thr403Met | |
| NM_002485.4:c.1454C>T , LRG_158t1:c.1454C>T | NP_002476.2:p.Thr485Met | |
| XM_011517044.1:c.1430C>T | XP_011515346.1:p.Thr477Met | |
| XM_011517045.1:c.1208C>T | XP_011515347.1:p.Thr403Met | |
| XR_928335.1:n.1593C>T | ||
| XM_017013460.1:c.575C>T | XP_016868949.1:p.Thr192Met | |
| XM_017013462.2:c.575C>T | XP_016868951.1:p.Thr192Met | |
| XM_024447163.1:c.1208C>T | XP_024302931.1:p.Thr403Met | |
| XM_024447164.1:c.1208C>T | XP_024302932.1:p.Thr403Met | |
| XM_024447165.1:c.575C>T | XP_024302933.1:p.Thr192Met | |
| NM_002485.5:c.1454C>T MANE Select | NP_002476.2:p.Thr485Met | |
| NM_001024688.3:c.1208C>T | NP_001019859.1:p.Thr403Met |