Linked Data
ClinVar Variation Id:
337120
ClinVar RCV Id:
RCV000324373
dbSNP Id:
rs886056340
gnomAD v3:
2-74529648-G-A
gnomAD v4:
2-74529648-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74529648G>A , CM000664.2:g.74529648G>A | GRCh38 |
| NC_000002.11:g.74756775G>A , CM000664.1:g.74756775G>A | GRCh37 |
| NC_000002.10:g.74610283G>A | NCBI36 |
| NG_012163.1:g.5244G>A | |
| NG_033037.1:g.5200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696725.1:n.53G>A (HTRA2) | ||
| ENST00000377526.4:c.-19C>T (AUP1) MANE Select | ENSP00000366748.3:n.-19C>T | |
| ENST00000258080.7:c.-359G>A (HTRA2) | ENSP00000258080.3:n.-359G>A | |
| ENST00000377526.3:c.-19C>T (AUP1) | ENSP00000366748.3:n.-19C>T | |
| ENST00000425118.5:c.-19C>T (AUP1) | ENSP00000403430.1:n.-19C>T | |
| ENST00000463900.5:n.50C>T (AUP1) | ||
| ENST00000466894.5:n.38C>T (AUP1) | ||
| ENST00000472800.1:n.113C>T (AUP1) | ||
| NM_013247.4:c.-359G>A (HTRA2) | NP_037379.1:n.-359G>A | |
| NM_145074.2:c.-359G>A (HTRA2) | NP_659540.1:n.-359G>A | |
| NM_181575.4:c.-19C>T (AUP1) | NP_853553.1:n.-19C>T | |
| NR_126510.1:n.250C>T (AUP1) | ||
| NR_126511.1:n.250C>T (AUP1) | ||
| XM_005264392.2:c.74C>T (AUP1) | XP_005264449.1:p.Ala25Val | |
| NM_001321727.1:c.-359G>A (HTRA2) | NP_001308656.1:n.-359G>A | |
| NM_001321728.1:c.-359G>A (HTRA2) | NP_001308657.1:n.-359G>A | |
| NR_135769.1:n.244G>A (HTRA2) | ||
| NR_135770.1:n.244G>A (HTRA2) | ||
| NR_135771.1:n.244G>A (HTRA2) | ||
| NR_135772.1:n.244G>A (HTRA2) | ||
| NM_181575.5:c.-19C>T (AUP1) MANE Select | NP_853553.1:n.-19C>T | |
| NR_126510.2:n.59C>T (AUP1) | ||
| NR_126511.2:n.59C>T (AUP1) |