Revel Score:
ENST00000380152 (MANE Select)
0.312
ENST00000544455
0.312
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00013605 (SAS)
Exomes Max Group AF
0.00014347 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32370983T>C , CM000675.2:g.32370983T>C | GRCh38 |
| NC_000013.10:g.32945120T>C , CM000675.1:g.32945120T>C | GRCh37 |
| NC_000013.9:g.31843120T>C | NCBI36 |
| NG_012772.3:g.60504T>C , LRG_293:g.60504T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8515T>C | ENSP00000434898.2:p.Tyr2839His | |
| ENST00000528762.2:c.8515T>C | ENSP00000433168.2:p.Tyr2839His | |
| ENST00000530893.7:c.8146T>C | ENSP00000499438.2:p.Tyr2716His | |
| ENST00000665585.2:c.8515T>C | ENSP00000499570.2:p.Tyr2839His | |
| ENST00000666593.2:c.8515T>C | ENSP00000499256.2:p.Tyr2839His | |
| ENST00000700202.2:c.8515T>C | ENSP00000514856.2:p.Tyr2839His | |
| ENST00000700202.1:c.982T>C | ENSP00000514856.1:p.Tyr328His | |
| ENST00000380152.8:c.8515T>C MANE Select | ENSP00000369497.3:p.Tyr2839His | |
| ENST00000544455.6:c.8515T>C | ENSP00000439902.1:p.Tyr2839His | |
| ENST00000614259.2:c.8523T>C | ENSP00000506251.1:n.8523T>C | |
| ENST00000665585.1:c.1080T>C | ||
| ENST00000680887.1:c.8515T>C | ENSP00000505508.1:p.Tyr2839His | |
| ENST00000380152.7:c.8515T>C | ENSP00000369497.3:p.Tyr2839His | |
| ENST00000528762.1:c.13T>C | ENSP00000433168.1:p.Tyr5His | |
| ENST00000544455.5:c.8515T>C | ENSP00000439902.1:p.Tyr2839His | |
| NM_000059.3:c.8515T>C , LRG_293t1:c.8515T>C | NP_000050.2:p.Tyr2839His | |
| XM_011535203.1:c.8515T>C | XP_011533505.1:p.Tyr2839His | |
| XM_011535204.1:c.8419T>C | XP_011533506.1:p.Tyr2807His | |
| XM_011535205.1:c.8515T>C | XP_011533507.1:p.Tyr2839His | |
| NM_000059.4:c.8515T>C MANE Select | NP_000050.3:p.Tyr2839His |