dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000576 (NFE)
Revel Score:
ENST00000260649 (MANE Select)
0.515
ENST00000409387
0.515
ENST00000540334
0.515
ENST00000410056
0.515
ENST00000409741
0.515
ENST00000409229
0.515
ENST00000541289
0.515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44280827G>T , CM000664.2:g.44280827G>T | GRCh38 |
| NC_000002.11:g.44507966G>T , CM000664.1:g.44507966G>T | GRCh37 |
| NC_000002.10:g.44361470G>T | NCBI36 |
| NG_008233.1:g.10370G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.542G>T MANE Select | ENSP00000260649.6:p.Arg181Leu | |
| ENST00000649044.1:c.*553G>T | ENSP00000497083.1:n.*553G>T | |
| ENST00000260649.10:c.542G>T | ENSP00000260649.6:p.Arg181Leu | |
| ENST00000409229.7:c.542G>T | ENSP00000386620.3:p.Arg181Leu | |
| ENST00000409387.5:c.542G>T | ENSP00000387308.1:p.Arg181Leu | |
| ENST00000409741.5:c.542G>T | ENSP00000386954.1:p.Arg181Leu | |
| ENST00000410056.7:c.542G>T | ENSP00000387337.3:p.Arg181Leu | |
| ENST00000611973.4:c.542G>T | ENSP00000483618.1:p.Arg181Leu | |
| NM_000341.3:c.542G>T | NP_000332.2:p.Arg181Leu | |
| XM_011533047.1:c.542G>T | XP_011531349.1:p.Arg181Leu | |
| XM_011533047.3:c.542G>T | XP_011531349.1:p.Arg181Leu | |
| NM_000341.4:c.542G>T MANE Select | NP_000332.2:p.Arg181Leu |