Linked Data
ClinVar Variation Id:
337140
ClinVar RCV Id:
RCV000269361
dbSNP Id:
rs775428682
gnomAD v3:
2-74533234-G-C
gnomAD v4:
2-74533234-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74533234G>C , CM000664.2:g.74533234G>C | GRCh38 |
| NC_000002.11:g.74760361G>C , CM000664.1:g.74760361G>C | GRCh37 |
| NC_000002.10:g.74613869G>C | NCBI36 |
| NG_012163.1:g.8830G>C | |
| NG_033037.1:g.1614C>G | |
| NG_033047.1:g.25702C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467961.6:n.1360G>C (HTRA2) | ||
| ENST00000696727.1:c.*249G>C (HTRA2) | ENSP00000512836.1:n.*249G>C | |
| ENST00000696729.1:n.1689G>C (HTRA2) | ||
| ENST00000258080.8:c.*249G>C (HTRA2) MANE Select | ENSP00000258080.3:n.*249G>C | |
| ENST00000264094.8:c.*372C>G (LOXL3) MANE Select | ENSP00000264094.3:n.*372C>G | |
| ENST00000258080.7:c.*249G>C (HTRA2) | ENSP00000258080.3:n.*249G>C | |
| ENST00000264094.7:c.*372C>G (LOXL3) | ENSP00000264094.3:n.*372C>G | |
| ENST00000352222.7:c.*249G>C (HTRA2) | ENSP00000312893.3:n.*249G>C | |
| ENST00000393937.6:c.*372C>G (LOXL3) | ENSP00000377512.2:n.*372C>G | |
| ENST00000409249.5:c.*372C>G (LOXL3) | ENSP00000387103.1:n.*372C>G | |
| ENST00000467961.5:n.1310G>C (HTRA2) | ||
| ENST00000470907.6:n.2017C>G (LOXL3) | ||
| ENST00000484352.5:n.1689G>C (HTRA2) | ||
| NM_001289164.1:c.*372C>G (LOXL3) | NP_001276093.1:n.*372C>G | |
| NM_001289165.1:c.*372C>G (LOXL3) | NP_001276094.1:n.*372C>G | |
| NM_013247.4:c.*249G>C (HTRA2) | NP_037379.1:n.*249G>C | |
| NM_032603.3:c.*372C>G (LOXL3) | NP_115992.1:n.*372C>G | |
| NM_145074.2:c.*249G>C (HTRA2) | NP_659540.1:n.*249G>C | |
| XM_011533134.1:c.*372C>G (LOXL3) | XP_011531436.1:n.*372C>G | |
| NM_001289164.2:c.*372C>G (LOXL3) | NP_001276093.1:n.*372C>G | |
| NM_001321727.1:c.*249G>C (HTRA2) | NP_001308656.1:n.*249G>C | |
| NM_001321728.1:c.*249G>C (HTRA2) | NP_001308657.1:n.*249G>C | |
| NM_032603.4:c.*372C>G (LOXL3) | NP_115992.1:n.*372C>G | |
| NR_135769.1:n.2268G>C (HTRA2) | ||
| NR_135770.1:n.1696G>C (HTRA2) | ||
| NR_135771.1:n.1680G>C (HTRA2) | ||
| NR_135772.1:n.1700G>C (HTRA2) | ||
| XM_011533134.2:c.*372C>G (LOXL3) | XP_011531436.1:n.*372C>G | |
| XM_017005112.1:c.*372C>G (LOXL3) | XP_016860601.1:n.*372C>G | |
| XM_024453176.1:c.*372C>G (LOXL3) | XP_024308944.1:n.*372C>G | |
| XM_024453177.1:c.*372C>G (LOXL3) | XP_024308945.1:n.*372C>G | |
| XM_024453178.1:c.*372C>G (LOXL3) | XP_024308946.1:n.*372C>G | |
| NM_032603.5:c.*372C>G (LOXL3) MANE Select | NP_115992.1:n.*372C>G | |
| NM_001289164.3:c.*372C>G (LOXL3) | NP_001276093.1:n.*372C>G | |
| NM_001289165.2:c.*372C>G (LOXL3) | NP_001276094.1:n.*372C>G | |
| NM_013247.5:c.*249G>C (HTRA2) MANE Select | NP_037379.1:n.*249G>C |