Revel Score:
ENST00000339797
0.322
ENST00000351556
0.322
ENST00000395559
0.322
ENST00000337653 (MANE Select)
0.322
ENST00000395562
0.322
ENST00000455728
0.322
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01179302 (AFR)
Genomes Max Group AF
0.01190253 (AFR)
Exomes Max Group AF
0.01107297 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49622143C>G , CM000672.2:g.49622143C>G | GRCh38 |
| NC_000010.10:g.50830189C>G , CM000672.1:g.50830189C>G | GRCh37 |
| NC_000010.9:g.50500195C>G | NCBI36 |
| NG_011797.1:g.18049C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.745C>G MANE Select | ENSP00000337103.2:p.Leu249Val | |
| ENST00000337653.6:c.745C>G | ENSP00000337103.2:p.Leu249Val | |
| ENST00000339797.5:c.391C>G | ENSP00000343486.1:p.Leu131Val | |
| ENST00000351556.7:c.391C>G | ENSP00000345878.3:p.Leu131Val | |
| ENST00000395559.6:c.391C>G | ENSP00000378926.2:p.Leu131Val | |
| ENST00000395562.2:c.499C>G | ENSP00000378929.2:p.Leu167Val | |
| ENST00000460699.5:n.726C>G | ||
| ENST00000466590.6:c.*476C>G | ENSP00000473443.1:n.*476C>G | |
| NM_001142929.1:c.391C>G | NP_001136401.1:p.Leu131Val | |
| NM_001142933.1:c.499C>G | NP_001136405.1:p.Leu167Val | |
| NM_001142934.1:c.391C>G | NP_001136406.1:p.Leu131Val | |
| NM_020549.4:c.745C>G | NP_065574.3:p.Leu249Val | |
| NM_020984.3:c.391C>G | NP_066264.3:p.Leu131Val | |
| NM_020985.3:c.391C>G | NP_066265.3:p.Leu131Val | |
| NM_020986.3:c.391C>G | NP_066266.3:p.Leu131Val | |
| NM_001142929.2:c.391C>G | NP_001136401.2:p.Leu131Val | |
| NM_001142933.2:c.499C>G | NP_001136405.2:p.Leu167Val | |
| NM_001142934.2:c.391C>G | NP_001136406.2:p.Leu131Val | |
| NM_020549.5:c.745C>G MANE Select | NP_065574.4:p.Leu249Val | |
| NM_020984.4:c.391C>G | NP_066264.4:p.Leu131Val | |
| NM_020985.4:c.391C>G | NP_066265.4:p.Leu131Val | |
| NM_020986.4:c.391C>G | NP_066266.4:p.Leu131Val |