Linked Data
ClinVar Variation Id:
337124
ClinVar RCV Id:
RCV000384669
dbSNP Id:
rs569404179
gnomAD v3:
2-74529861-G-A
gnomAD v4:
2-74529861-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74529861G>A , CM000664.2:g.74529861G>A | GRCh38 |
| NC_000002.11:g.74756988G>A , CM000664.1:g.74756988G>A | GRCh37 |
| NC_000002.10:g.74610496G>A | NCBI36 |
| NG_012163.1:g.5457G>A | |
| NG_033037.1:g.4987C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462909.6:n.137G>A (HTRA2) | ||
| ENST00000467961.6:n.137G>A (HTRA2) | ||
| ENST00000484881.6:n.40G>A (HTRA2) | ||
| ENST00000696725.1:n.266G>A (HTRA2) | ||
| ENST00000696726.1:n.83G>A (HTRA2) | ||
| ENST00000258080.7:c.-146G>A (HTRA2) | ENSP00000258080.3:n.-146G>A | |
| ENST00000377526.3:c.-232C>T (AUP1) | ENSP00000366748.3:n.-232C>T | |
| ENST00000462909.5:n.137G>A (HTRA2) | ||
| ENST00000467961.5:n.87G>A (HTRA2) | ||
| ENST00000484881.5:n.40G>A (HTRA2) | ||
| NM_013247.4:c.-146G>A (HTRA2) | NP_037379.1:n.-146G>A | |
| NM_145074.2:c.-146G>A (HTRA2) | NP_659540.1:n.-146G>A | |
| NM_181575.4:c.-232C>T (AUP1) | NP_853553.1:n.-232C>T | |
| NR_126510.1:n.37C>T (AUP1) | ||
| NR_126511.1:n.37C>T (AUP1) | ||
| NM_001321727.1:c.-146G>A (HTRA2) | NP_001308656.1:n.-146G>A | |
| NM_001321728.1:c.-146G>A (HTRA2) | NP_001308657.1:n.-146G>A | |
| NR_135769.1:n.457G>A (HTRA2) | ||
| NR_135770.1:n.457G>A (HTRA2) | ||
| NR_135771.1:n.457G>A (HTRA2) | ||
| NR_135772.1:n.457G>A (HTRA2) |