Revel Score:
ENST00000207549 (MANE Select)
0.348
ENST00000412096
0.348
ENST00000448606
0.348
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022724 (MID)
Exomes Max Group AF
0.00014348 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75840100G>A , CM000679.2:g.75840100G>A | GRCh38 |
| NC_000017.10:g.73836181G>A , CM000679.1:g.73836181G>A | GRCh37 |
| NC_000017.9:g.71347776G>A | NCBI36 |
| NG_007266.1:g.9618C>T , LRG_122:g.9618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587504.6:c.850C>T | ENSP00000514388.1:p.Arg284Trp | |
| ENST00000592386.6:c.851C>T | ENSP00000466826.2:p.Ser284Leu | |
| ENST00000699511.1:c.49C>T | ||
| ENST00000207549.9:c.869C>T MANE Select | ENSP00000207549.3:p.Ser290Leu | |
| ENST00000207549.8:c.869C>T | ENSP00000207549.3:p.Ser290Leu | |
| ENST00000412096.6:c.869C>T | ENSP00000388093.1:p.Ser290Leu | |
| ENST00000586147.1:c.118-3844C>T | ENSP00000466543.1:n.118-3844C>T | |
| ENST00000587105.1:c.91C>T | ||
| ENST00000587504.5:n.872C>T | ||
| ENST00000591563.5:n.1064C>T | ||
| ENST00000592386.5:c.848C>T | ENSP00000466826.1:p.Ser283Leu | |
| NM_199242.2:c.869C>T , LRG_122t1:c.869C>T | NP_954712.1:p.Ser290Leu | |
| XM_011524504.1:c.869C>T | XP_011522806.1:p.Ser290Leu | |
| XM_011524505.1:c.869C>T | XP_011522807.1:p.Ser290Leu | |
| XM_011524506.1:c.869C>T | XP_011522808.1:p.Ser290Leu | |
| XM_011524507.1:c.260C>T | XP_011522809.1:p.Ser87Leu | |
| XM_011524508.1:c.260C>T | XP_011522810.1:p.Ser87Leu | |
| XM_011524504.2:c.869C>T | XP_011522806.1:p.Ser290Leu | |
| XM_011524507.2:c.260C>T | XP_011522809.1:p.Ser87Leu | |
| XM_024450640.1:c.260C>T | XP_024306408.1:p.Ser87Leu | |
| NM_199242.3:c.869C>T MANE Select | NP_954712.1:p.Ser290Leu |