Linked Data
ClinVar Variation Id:
2322998
ClinVar RCV Id:
RCV002920418
dbSNP Id:
rs1248531813
gnomAD v2:
14-21162082-C-A
gnomAD v3:
14-20693923-C-A
gnomAD v4:
14-20693923-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20693923C>A , CM000676.2:g.20693923C>A | GRCh38 |
| NC_000014.8:g.21162082C>A , CM000676.1:g.21162082C>A | GRCh37 |
| NC_000014.7:g.20231922C>A | NCBI36 |
| NG_008717.2:g.14747C>A , LRG_653:g.14747C>A | |
| NG_033053.1:g.14711C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397990.5:c.359C>A (ANG) MANE Select | ENSP00000381077.4:p.Ala120Asp | |
| ENST00000555835.3:c.-17-5432C>A (RNASE4) MANE Select | ENSP00000452245.1:n.-17-5432C>A | |
| ENST00000336811.10:c.359C>A (ANG) | ENSP00000336762.6:p.Ala120Asp | |
| ENST00000397990.4:c.359C>A (ANG) | ENSP00000381077.4:p.Ala120Asp | |
| ENST00000397995.2:c.-17-5432C>A (RNASE4) | ENSP00000381081.2:n.-17-5432C>A | |
| ENST00000553909.1:c.86+273C>A | ENSP00000477037.1:n.86+273C>A | |
| ENST00000554073.1:n.146-4943C>A (ANG) | ||
| ENST00000555597.1:c.-18+5049C>A (RNASE4) | ENSP00000451624.1:n.-18+5049C>A | |
| ENST00000555835.2:c.-17-5432C>A (RNASE4) | ENSP00000452245.1:n.-17-5432C>A | |
| NM_001097577.2:c.359C>A (ANG) | NP_001091046.1:p.Ala120Asp | |
| NM_001145.4:c.359C>A , LRG_653t1:c.359C>A (ANG) | NP_001136.1:p.Ala120Asp | |
| NM_001282192.1:c.-18+273C>A (RNASE4) | NP_001269121.1:n.-18+273C>A | |
| NM_001282193.1:c.-17-5432C>A (RNASE4) | NP_001269122.1:n.-17-5432C>A | |
| NM_002937.4:c.-17-5432C>A (RNASE4) | NP_002928.1:n.-17-5432C>A | |
| NM_194431.2:c.-18+5049C>A (RNASE4) | NP_919412.1:n.-18+5049C>A | |
| NM_002937.5:c.-17-5432C>A (RNASE4) MANE Select | NP_002928.1:n.-17-5432C>A | |
| NM_001097577.3:c.359C>A (ANG) MANE Select | NP_001091046.1:p.Ala120Asp | |
| NM_001282192.2:c.-18+273C>A (RNASE4) | NP_001269121.1:n.-18+273C>A | |
| NM_001282193.2:c.-17-5432C>A (RNASE4) | NP_001269122.1:n.-17-5432C>A | |
| NM_194431.3:c.-18+5049C>A (RNASE4) | NP_919412.1:n.-18+5049C>A | |
| NM_001385271.1:c.359C>A (ANG) | NP_001372200.1:p.Ala120Asp | |
| NM_001385272.1:c.359C>A (ANG) | NP_001372201.1:p.Ala120Asp | |
| NM_001385273.1:c.359C>A (ANG) | NP_001372202.1:p.Ala120Asp | |
| NM_001385274.1:c.359C>A (ANG) | NP_001372203.1:p.Ala120Asp | |
| NR_174964.1:n.467-174G>T (EGILA) |