Revel Score:
ENST00000415389 (MANE Select)
0.251
ENST00000425359
0.251
ENST00000335304
0.251
ENST00000436361
0.251
ENST00000440596
0.251
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184100628G>C , CM000665.2:g.184100628G>C | GRCh38 |
| NC_000003.11:g.183818416G>C , CM000665.1:g.183818416G>C | GRCh37 |
| NC_000003.10:g.185301110G>C | NCBI36 |
| NG_012452.1:g.5450G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335304.6:c.256G>C (HTR3E) | ENSP00000335511.2:p.Ala86Pro | |
| ENST00000415389.6:c.211G>C (HTR3E) MANE Select | ENSP00000401444.2:p.Ala71Pro | |
| ENST00000425359.6:c.211G>C (HTR3E) | ENSP00000401900.2:p.Ala71Pro | |
| ENST00000431041.5:c.-3G>C (HTR3E) | ENSP00000391254.1:n.-3G>C | |
| ENST00000436361.6:c.256G>C (HTR3E) | ENSP00000395833.2:p.Ala86Pro | |
| ENST00000440596.2:c.256G>C (HTR3E) | ENSP00000406050.2:p.Ala86Pro | |
| NM_001256613.1:c.211G>C (HTR3E) | NP_001243542.1:p.Ala71Pro | |
| NM_001256614.1:c.256G>C (HTR3E) | NP_001243543.1:p.Ala86Pro | |
| NM_182589.2:c.256G>C (HTR3E) | NP_872395.2:p.Ala86Pro | |
| NM_198313.2:c.211G>C (HTR3E) | NP_938055.1:p.Ala71Pro | |
| NM_198314.2:c.256G>C (HTR3E) | NP_938056.1:p.Ala86Pro | |
| NR_133658.1:n.282+3532C>G (HTR3E-AS1) | ||
| XR_002959683.1:n.671-26541C>G (EIF2B5-DT) | ||
| NM_001256613.2:c.211G>C (HTR3E) MANE Select | NP_001243542.1:p.Ala71Pro | |
| NM_198313.3:c.211G>C (HTR3E) | NP_938055.1:p.Ala71Pro |