Revel Score:
ENST00000265433 (MANE Select)
0.066
ENST00000409330
0.066
ENST00000452387
0.066
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89955528G>C , CM000670.2:g.89955528G>C | GRCh38 |
| NC_000008.10:g.90967756G>C , CM000670.1:g.90967756G>C | GRCh37 |
| NC_000008.9:g.91036932G>C | NCBI36 |
| NG_008860.1:g.34144C>G , LRG_158:g.34144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2454C>G | ||
| ENST00000517337.2:c.906C>G | ENSP00000429971.2:p.Ile302Met | |
| ENST00000523444.2:c.906C>G | ENSP00000428252.2:p.Ile302Met | |
| ENST00000697292.1:c.1152C>G | ENSP00000513229.1:p.Ile384Met | |
| ENST00000697293.1:c.1152C>G | ENSP00000513230.1:p.Ile384Met | |
| ENST00000697294.1:c.*763C>G | ENSP00000513231.1:n.*763C>G | |
| ENST00000697295.1:c.*461C>G | ENSP00000513232.1:n.*461C>G | |
| ENST00000697296.1:c.*820C>G | ENSP00000513233.1:n.*820C>G | |
| ENST00000697297.1:n.2937C>G | ||
| ENST00000697298.1:c.906C>G | ENSP00000513234.1:p.Ile302Met | |
| ENST00000697299.1:c.906C>G | ENSP00000513235.1:p.Ile302Met | |
| ENST00000697300.1:c.*756C>G | ENSP00000513236.1:n.*756C>G | |
| ENST00000697301.1:c.*673C>G | ENSP00000513237.1:n.*673C>G | |
| ENST00000697302.1:c.*673C>G | ENSP00000513238.1:n.*673C>G | |
| ENST00000697303.1:c.*756C>G | ENSP00000513239.1:n.*756C>G | |
| ENST00000697304.1:c.840C>G | ENSP00000513240.1:p.Ile280Met | |
| ENST00000697306.1:c.*152C>G | ENSP00000513241.1:n.*152C>G | |
| ENST00000697307.1:c.1152C>G | ENSP00000513242.1:p.Ile384Met | |
| ENST00000697308.1:c.1152C>G | ENSP00000513243.1:p.Ile384Met | |
| ENST00000697309.1:c.1152C>G | ENSP00000513244.1:p.Ile384Met | |
| ENST00000697310.1:c.1152C>G | ENSP00000513245.1:p.Ile384Met | |
| ENST00000697311.1:c.1152C>G | ENSP00000513246.1:p.Ile384Met | |
| ENST00000697312.1:c.*550C>G | ENSP00000513247.1:n.*550C>G | |
| ENST00000697313.1:n.2687+14836C>G | ||
| ENST00000697314.1:n.2943C>G | ||
| ENST00000697315.1:c.1152C>G | ENSP00000513248.1:p.Ile384Met | |
| ENST00000697316.1:n.1273C>G | ||
| ENST00000697317.1:n.1262C>G | ||
| ENST00000697318.1:n.1264C>G | ||
| ENST00000265433.8:c.1152C>G MANE Select | ENSP00000265433.4:p.Ile384Met | |
| ENST00000265433.7:c.1152C>G | ENSP00000265433.3:p.Ile384Met | |
| ENST00000396252.6:c.*1025C>G | ENSP00000379551.2:n.*1025C>G | |
| ENST00000409330.5:c.906C>G | ENSP00000386924.1:p.Ile302Met | |
| NM_001024688.2:c.906C>G | NP_001019859.1:p.Ile302Met | |
| NM_002485.4:c.1152C>G , LRG_158t1:c.1152C>G | NP_002476.2:p.Ile384Met | |
| XM_011517044.1:c.1128C>G | XP_011515346.1:p.Ile376Met | |
| XM_011517045.1:c.906C>G | XP_011515347.1:p.Ile302Met | |
| XM_011517046.1:c.1152C>G | XP_011515348.1:p.Ile384Met | |
| XR_928335.1:n.1289C>G | ||
| XM_017013460.1:c.273C>G | XP_016868949.1:p.Ile91Met | |
| XM_017013462.2:c.273C>G | XP_016868951.1:p.Ile91Met | |
| XM_024447163.1:c.906C>G | XP_024302931.1:p.Ile302Met | |
| XM_024447164.1:c.906C>G | XP_024302932.1:p.Ile302Met | |
| XM_024447165.1:c.273C>G | XP_024302933.1:p.Ile91Met | |
| NM_002485.5:c.1152C>G MANE Select | NP_002476.2:p.Ile384Met | |
| NM_001024688.3:c.906C>G | NP_001019859.1:p.Ile302Met |