Revel Score:
ENST00000330807
0.482
ENST00000396198
0.482
ENST00000335854
0.482
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000385 (NFE)
Exomes Max Group AF
0.0000041 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55014866C>G , CM000685.2:g.55014866C>G | GRCh38 |
| NC_000023.10:g.55041299C>G , CM000685.1:g.55041299C>G | GRCh37 |
| NC_000023.9:g.55058024C>G | NCBI36 |
| NG_008983.1:g.21199G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650242.1:c.1318G>C MANE Select | ENSP00000497236.1:p.Gly440Arg | |
| ENST00000330807.9:c.1318G>C | ENSP00000332369.5:p.Gly440Arg | |
| ENST00000335854.8:c.1207G>C | ENSP00000337131.4:p.Gly403Arg | |
| ENST00000396198.7:c.1279G>C | ENSP00000379501.3:p.Gly427Arg | |
| ENST00000498636.1:n.609G>C | ||
| NM_000032.4:c.1318G>C | NP_000023.2:p.Gly440Arg | |
| NM_001037967.3:c.1207G>C | NP_001033056.1:p.Gly403Arg | |
| NM_001037968.3:c.1279G>C | NP_001033057.1:p.Gly427Arg | |
| XM_005261995.2:c.1390G>C | XP_005262052.1:p.Gly464Arg | |
| XM_011530771.1:c.457G>C | XP_011529073.1:p.Gly153Arg | |
| NM_000032.5:c.1318G>C MANE Select | NP_000023.2:p.Gly440Arg | |
| NM_001037967.4:c.1207G>C | NP_001033056.1:p.Gly403Arg | |
| NM_001037968.4:c.1279G>C | NP_001033057.1:p.Gly427Arg |