gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002981 (EAS)
Exomes Max Group AF
0.0000335 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155070911T>G , CM000669.2:g.155070911T>G | GRCh38 |
| NC_000007.13:g.154862621T>G , CM000669.1:g.154862621T>G | GRCh37 |
| NC_000007.12:g.154493554T>G | NCBI36 |
| NG_044997.1:g.5588T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287907.3:c.12T>G (HTR5A) MANE Select | ENSP00000287907.2:p.Pro4= | |
| ENST00000287907.2:c.12T>G (HTR5A) | ENSP00000287907.2:p.Pro4= | |
| NM_024012.3:c.12T>G (HTR5A) | NP_076917.1:p.Pro4= | |
| NR_038945.1:n.524+123A>C (HTR5A-AS1) | ||
| NM_024012.4:c.12T>G (HTR5A) MANE Select | NP_076917.1:p.Pro4= |