Revel Score:
ENST00000221413
0.358
ENST00000413176
0.358
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49010016C>A , CM000681.2:g.49010016C>A | GRCh38 |
| NC_000019.9:g.49513273C>A , CM000681.1:g.49513273C>A | GRCh37 |
| NC_000019.8:g.54205085C>A | NCBI36 |
| NG_033041.1:g.21118C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595090.6:c.613C>A MANE Select | ENSP00000473172.1:p.Leu205Met | |
| ENST00000221413.10:c.602C>A | ENSP00000221413.6:p.Ala201Asp | |
| ENST00000594017.5:n.635C>A | ||
| ENST00000594338.1:n.601C>A | ||
| ENST00000595090.5:c.613C>A | ENSP00000473172.1:p.Leu205Met | |
| ENST00000596247.5:c.*530C>A | ENSP00000471538.1:n.*530C>A | |
| ENST00000601968.5:c.478C>A | ENSP00000471524.1:p.Leu160Met | |
| ENST00000627972.1:c.478C>A | ENSP00000486242.1:p.Leu160Met | |
| NM_006666.1:c.613C>A | NP_006657.1:p.Leu205Met | |
| XM_005258426.2:c.511C>A | XP_005258483.1:p.Leu171Met | |
| XM_005258427.1:c.511C>A | XP_005258484.1:p.Leu171Met | |
| XM_005258428.2:c.478C>A | XP_005258485.1:p.Leu160Met | |
| XM_011526330.1:c.478C>A | XP_011524632.1:p.Leu160Met | |
| NM_001321190.1:c.511C>A | NP_001308119.1:p.Leu171Met | |
| NM_001321191.1:c.478C>A | NP_001308120.1:p.Leu160Met | |
| NM_006666.2:c.613C>A | NP_006657.1:p.Leu205Met | |
| NR_135578.1:n.1066C>A | ||
| NM_006666.3:c.613C>A MANE Select | NP_006657.1:p.Leu205Met | |
| NM_001321190.2:c.511C>A | NP_001308119.1:p.Leu171Met | |
| NR_135578.2:n.627C>A |