Revel Score:
ENST00000269143 (MANE Select)
0.894
ENST00000537174
0.894
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12351335G>A , CM000680.2:g.12351335G>A | GRCh38 |
| NC_000018.9:g.12351334G>A , CM000680.1:g.12351334G>A | GRCh37 |
| NC_000018.8:g.12341334G>A | NCBI36 |
| NG_023361.1:g.30942C>T , LRG_666:g.30942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*993C>T | ENSP00000508998.1:n.*993C>T | |
| ENST00000688199.1:c.1259C>T | ENSP00000510237.1:p.Pro420Leu | |
| ENST00000691179.1:c.1322C>T | ENSP00000509010.1:p.Pro441Leu | |
| ENST00000691970.1:c.*774C>T | ENSP00000508440.1:n.*774C>T | |
| ENST00000692497.1:c.1397C>T | ENSP00000509870.1:p.Pro466Leu | |
| ENST00000692988.1:n.1215C>T | ||
| ENST00000269143.8:c.1397C>T MANE Select | ENSP00000269143.2:p.Pro466Leu | |
| ENST00000269143.7:c.1397C>T | ENSP00000269143.2:p.Pro466Leu | |
| NM_006796.2:c.1397C>T , LRG_666t1:c.1397C>T | NP_006787.2:p.Pro466Leu | |
| XM_011525601.1:c.1397C>T | XP_011523903.1:p.Pro466Leu | |
| XM_011525601.3:c.1397C>T | XP_011523903.1:p.Pro466Leu | |
| NM_006796.3:c.1397C>T MANE Select | NP_006787.2:p.Pro466Leu |