Linked Data
ClinVar Variation Id:
337117
dbSNP Id:
rs376231592
ExAC:
2:74756587 G / C
gnomAD v2:
2-74756587-G-C
gnomAD v3:
2-74529460-G-C
gnomAD v4:
2-74529460-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74529460G>C , CM000664.2:g.74529460G>C | GRCh38 |
| NC_000002.11:g.74756587G>C , CM000664.1:g.74756587G>C | GRCh37 |
| NC_000002.10:g.74610095G>C | NCBI36 |
| NG_012163.1:g.5056G>C | |
| NG_033037.1:g.5388C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377526.4:c.90C>G (AUP1) MANE Select | ENSP00000366748.3:p.Leu30= | |
| ENST00000258080.7:c.-547G>C (HTRA2) | ENSP00000258080.3:n.-547G>C | |
| ENST00000377526.3:c.90C>G (AUP1) | ENSP00000366748.3:p.Leu30= | |
| ENST00000425118.5:c.90C>G (AUP1) | ENSP00000403430.1:p.Leu30= | |
| ENST00000463900.5:n.158C>G (AUP1) | ||
| ENST00000466894.5:n.146C>G (AUP1) | ||
| ENST00000472800.1:n.221C>G (AUP1) | ||
| NM_013247.4:c.-547G>C (HTRA2) | NP_037379.1:n.-547G>C | |
| NM_145074.2:c.-547G>C (HTRA2) | NP_659540.1:n.-547G>C | |
| NM_181575.4:c.90C>G (AUP1) | NP_853553.1:p.Leu30= | |
| NR_126510.1:n.358C>G (AUP1) | ||
| NR_126511.1:n.358C>G (AUP1) | ||
| XM_005264392.2:c.182C>G (AUP1) | XP_005264449.1:p.Ser61Cys | |
| NM_001321727.1:c.-547G>C (HTRA2) | NP_001308656.1:n.-547G>C | |
| NM_001321728.1:c.-547G>C (HTRA2) | NP_001308657.1:n.-547G>C | |
| NR_135769.1:n.56G>C (HTRA2) | ||
| NR_135770.1:n.56G>C (HTRA2) | ||
| NR_135771.1:n.56G>C (HTRA2) | ||
| NR_135772.1:n.56G>C (HTRA2) | ||
| NM_181575.5:c.90C>G (AUP1) MANE Select | NP_853553.1:p.Leu30= | |
| NR_126510.2:n.167C>G (AUP1) | ||
| NR_126511.2:n.167C>G (AUP1) |