Revel Score:
ENST00000327047 (MANE Select)
0.351
ENST00000328863
0.351
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006724 (NFE)
Exomes Max Group AF
0.00007047 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972617G>C , CM000665.2:g.150972617G>C | GRCh38 |
| NC_000003.11:g.150690404G>C , CM000665.1:g.150690404G>C | GRCh37 |
| NC_000003.10:g.152173094G>C | NCBI36 |
| NG_009168.1:g.5383C>G , LRG_700:g.5383C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.92C>G MANE Select | ENSP00000322280.1:p.Pro31Arg | |
| ENST00000468836.2:c.68C>G | ENSP00000419892.2:p.Pro23Arg | |
| ENST00000327047.5:c.92C>G | ENSP00000322280.1:p.Pro31Arg | |
| ENST00000328863.8:c.92C>G | ENSP00000329158.4:p.Pro31Arg | |
| ENST00000468836.1:c.-309C>G | ENSP00000419892.1:n.-309C>G | |
| ENST00000472224.1:n.98C>G | ||
| NM_001195794.1:c.92C>G , LRG_700t1:c.92C>G | NP_001182723.1:p.Pro31Arg | |
| NM_001256819.1:c.92C>G | NP_001243748.1:p.Pro31Arg | |
| NM_174878.2:c.92C>G | NP_777367.1:p.Pro31Arg | |
| NR_046380.2:n.383C>G | ||
| XR_924167.1:n.404C>G | ||
| NM_001256819.2:c.92C>G | NP_001243748.1:p.Pro31Arg | |
| NM_174878.3:c.92C>G MANE Select | NP_777367.1:p.Pro31Arg | |
| NR_046380.3:n.111C>G |