Revel Score:
ENST00000302475
0.095
ENST00000515367
0.095
ENST00000408903 (MANE Select)
0.095
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99847942 (NFE)
Genomes Max Group AF
0.99370226 (NFE)
Exomes Max Group AF
0.99843314 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.113104244T>C , CM000667.2:g.113104244T>C | GRCh38 |
| NC_000005.9:g.112439941T>C , CM000667.1:g.112439941T>C | GRCh37 |
| NC_000005.8:g.112467840T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302475.9:c.569A>G | ENSP00000305617.4:p.Lys190Arg | |
| ENST00000408903.7:c.1139A>G MANE Select | ENSP00000386227.3:p.Lys380Arg | |
| ENST00000302475.8:c.569A>G | ENSP00000305617.4:p.Lys190Arg | |
| ENST00000408903.6:c.1139A>G | ENSP00000386227.3:p.Lys380Arg | |
| ENST00000502648.5:n.259A>G | ||
| ENST00000505604.1:n.382A>G | ||
| ENST00000506605.6:n.593A>G | ||
| ENST00000511847.2:n.576A>G | ||
| ENST00000514701.5:c.569A>G | ENSP00000485220.1:p.Lys190Arg | |
| ENST00000515367.6:c.380A>G | ENSP00000421615.2:p.Lys127Arg | |
| XM_005271991.2:c.569A>G | XP_005272048.1:p.Lys190Arg | |
| XM_005271991.3:c.569A>G | XP_005272048.1:p.Lys190Arg | |
| XM_017009473.1:c.1139A>G | XP_016864962.1:p.Lys380Arg | |
| XM_017009474.1:c.539A>G | XP_016864963.1:p.Lys180Arg | |
| XM_024446049.1:c.380A>G | XP_024301817.1:p.Lys127Arg | |
| XM_024446050.1:c.380A>G | XP_024301818.1:p.Lys127Arg | |
| XM_024446051.1:c.380A>G | XP_024301819.1:p.Lys127Arg | |
| XM_024446052.1:c.380A>G | XP_024301820.1:p.Lys127Arg | |
| NM_001085377.2:c.1139A>G MANE Select | NP_001078846.2:p.Lys380Arg | |
| NM_002387.3:c.569A>G | NP_002378.2:p.Lys190Arg |