Revel Score:
ENST00000380149
0.961
ENST00000318227
0.961
ENST00000448843 (MANE Select)
0.961
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00222088 (NFE)
Genomes Max Group AF
0.00165732 (NFE)
Exomes Max Group AF
0.00224078 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8103390G>A , CM000679.2:g.8103390G>A | GRCh38 |
| NC_000017.10:g.8006708G>A , CM000679.1:g.8006708G>A | GRCh37 |
| NC_000017.9:g.7947433G>A | NCBI36 |
| NG_015807.1:g.20527C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.1889C>T | ENSP00000314879.4:p.Pro630Leu | |
| ENST00000380149.6:c.1889C>T | ENSP00000369494.2:p.Pro630Leu | |
| ENST00000448843.7:c.1889C>T MANE Select | ENSP00000400581.2:p.Pro630Leu | |
| ENST00000318227.3:c.2285C>T | ENSP00000314879.3:p.Pro762Leu | |
| ENST00000380149.5:c.2357C>T | ENSP00000369494.1:p.Pro786Leu | |
| ENST00000448843.6:c.1889C>T | ENSP00000400581.2:p.Pro630Leu | |
| ENST00000583808.1:n.126C>T | ||
| NM_001165960.1:c.2285C>T | NP_001159432.1:p.Pro762Leu | |
| NM_021628.2:c.1889C>T | NP_067641.2:p.Pro630Leu | |
| XR_001752579.2:n.2040C>T | ||
| XR_001752580.2:n.1951C>T | ||
| NM_001369446.1:c.1886C>T | NP_001356375.1:p.Pro629Leu | |
| NM_021628.3:c.1889C>T MANE Select | NP_067641.2:p.Pro630Leu |