Revel Score:
ENST00000374708
0.117
ENST00000341947 (MANE Select)
0.117
ENST00000357486
0.117
ENST00000374714
0.117
ENST00000374713
0.117
ENST00000395197
0.117
ENST00000374712
0.117
ENST00000361917
0.117
ENST00000457788
0.117
ENST00000395194
0.117
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012024 (EAS)
Genomes Max Group AF
0.00026486 (EAS)
Exomes Max Group AF
0.0000651 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33186673T>A , CM000668.2:g.33186673T>A | GRCh38 |
| NC_000006.11:g.33154450T>A , CM000668.1:g.33154450T>A | GRCh37 |
| NC_000006.10:g.33262428T>A | NCBI36 |
| NG_011589.1:g.10796A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682718.1:n.569A>T | ||
| ENST00000341947.7:c.752A>T MANE Select | ENSP00000339915.2:p.Gln251Leu | |
| ENST00000341947.6:c.752A>T | ENSP00000339915.2:p.Gln251Leu | |
| ENST00000361917.5:c.752A>T | ENSP00000355123.1:p.Gln251Leu | |
| ENST00000374708.8:c.752A>T | ENSP00000363840.4:p.Gln251Leu | |
| ENST00000395194.1:c.752A>T | ENSP00000378620.1:p.Gln251Leu | |
| ENST00000457788.5:c.752A>T | ENSP00000405520.1:p.Gln251Leu | |
| NM_001163771.1:c.752A>T | NP_001157243.1:p.Gln251Leu | |
| NM_080679.2:c.752A>T | NP_542410.2:p.Gln251Leu | |
| NM_080680.2:c.752A>T | NP_542411.2:p.Gln251Leu | |
| NM_080681.2:c.752A>T | NP_542412.2:p.Gln251Leu | |
| XM_011514298.1:c.-95A>T | XP_011512600.1:n.-95A>T | |
| XM_017010250.1:c.752A>T | XP_016865739.1:p.Gln251Leu | |
| NM_001163771.2:c.752A>T | NP_001157243.1:p.Gln251Leu | |
| NM_080680.3:c.752A>T MANE Select | NP_542411.2:p.Gln251Leu | |
| NM_080681.3:c.752A>T | NP_542412.2:p.Gln251Leu | |
| NM_080679.3:c.752A>T | NP_542410.2:p.Gln251Leu |