Revel Score:
ENST00000310581 (MANE Select)
0.200
ENST00000296820
0.200
ENST00000334602
0.200
ENST00000508104
0.200
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000455 (AFR)
Exomes Max Group AF
0.00000419 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1279467C>T , CM000667.2:g.1279467C>T | GRCh38 |
| NC_000005.9:g.1279582C>T , CM000667.1:g.1279582C>T | GRCh37 |
| NC_000005.8:g.1332582C>T | NCBI36 |
| NG_009265.1:g.20581G>A , LRG_343:g.20581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1954G>A MANE Select | ENSP00000309572.5:p.Glu652Lys | |
| ENST00000656021.1:c.*1500G>A | ENSP00000499759.1:n.*1500G>A | |
| ENST00000310581.9:c.1954G>A | ENSP00000309572.5:p.Glu652Lys | |
| ENST00000334602.10:c.1954G>A | ENSP00000334346.6:p.Glu652Lys | |
| ENST00000460137.6:c.1954G>A | ENSP00000425003.1:p.Glu652Lys | |
| ENST00000484238.6:n.767G>A | ||
| ENST00000508104.2:c.1954G>A | ENSP00000426042.2:p.Glu652Lys | |
| NM_001193376.1:c.1954G>A | NP_001180305.1:p.Glu652Lys | |
| NM_198253.2:c.1954G>A , LRG_343t1:c.1954G>A | NP_937983.2:p.Glu652Lys | |
| XM_011514104.1:c.424G>A | XP_011512406.1:p.Glu142Lys | |
| XM_011514105.1:c.310G>A | XP_011512407.1:p.Glu104Lys | |
| XM_011514106.1:c.310G>A | XP_011512408.1:p.Glu104Lys | |
| NR_149162.1:n.2012G>A | ||
| NR_149163.1:n.2012G>A | ||
| NM_001193376.2:c.1954G>A | NP_001180305.1:p.Glu652Lys | |
| NM_198253.3:c.1954G>A MANE Select | NP_937983.2:p.Glu652Lys | |
| NR_149162.2:n.2033G>A | ||
| NR_149163.2:n.2033G>A | ||
| NM_001193376.3:c.1954G>A | NP_001180305.1:p.Glu652Lys | |
| NR_149162.3:n.2033G>A | ||
| NR_149163.3:n.2033G>A |