Linked Data
ClinVar Variation Id:
18081
ClinVar RCV Id:
RCV000019707
dbSNP Id:
rs121909543
ExAC:
14:21162130 C / T
gnomAD v2:
14-21162130-C-T
gnomAD v3:
14-20693971-C-T
gnomAD v4:
14-20693971-C-T
PubMed:
PMID:17886298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20693971C>T , CM000676.2:g.20693971C>T | GRCh38 |
| NC_000014.8:g.21162130C>T , CM000676.1:g.21162130C>T | GRCh37 |
| NC_000014.7:g.20231970C>T | NCBI36 |
| NG_008717.2:g.14795C>T , LRG_653:g.14795C>T | |
| NG_033053.1:g.14759C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397990.5:c.407C>T (ANG) MANE Select | ENSP00000381077.4:p.Pro136Leu | |
| ENST00000555835.3:c.-17-5384C>T (RNASE4) MANE Select | ENSP00000452245.1:n.-17-5384C>T | |
| ENST00000336811.10:c.407C>T (ANG) | ENSP00000336762.6:p.Pro136Leu | |
| ENST00000397990.4:c.407C>T (ANG) | ENSP00000381077.4:p.Pro136Leu | |
| ENST00000397995.2:c.-17-5384C>T (RNASE4) | ENSP00000381081.2:n.-17-5384C>T | |
| ENST00000553909.1:c.86+321C>T | ENSP00000477037.1:n.86+321C>T | |
| ENST00000554073.1:n.146-4895C>T (ANG) | ||
| ENST00000555597.1:c.-18+5097C>T (RNASE4) | ENSP00000451624.1:n.-18+5097C>T | |
| ENST00000555835.2:c.-17-5384C>T (RNASE4) | ENSP00000452245.1:n.-17-5384C>T | |
| NM_001097577.2:c.407C>T (ANG) | NP_001091046.1:p.Pro136Leu | |
| NM_001145.4:c.407C>T , LRG_653t1:c.407C>T (ANG) | NP_001136.1:p.Pro136Leu | |
| NM_001282192.1:c.-18+321C>T (RNASE4) | NP_001269121.1:n.-18+321C>T | |
| NM_001282193.1:c.-17-5384C>T (RNASE4) | NP_001269122.1:n.-17-5384C>T | |
| NM_002937.4:c.-17-5384C>T (RNASE4) | NP_002928.1:n.-17-5384C>T | |
| NM_194431.2:c.-18+5097C>T (RNASE4) | NP_919412.1:n.-18+5097C>T | |
| NM_002937.5:c.-17-5384C>T (RNASE4) MANE Select | NP_002928.1:n.-17-5384C>T | |
| NM_001097577.3:c.407C>T (ANG) MANE Select | NP_001091046.1:p.Pro136Leu | |
| NM_001282192.2:c.-18+321C>T (RNASE4) | NP_001269121.1:n.-18+321C>T | |
| NM_001282193.2:c.-17-5384C>T (RNASE4) | NP_001269122.1:n.-17-5384C>T | |
| NM_194431.3:c.-18+5097C>T (RNASE4) | NP_919412.1:n.-18+5097C>T | |
| NM_001385271.1:c.407C>T (ANG) | NP_001372200.1:p.Pro136Leu | |
| NM_001385272.1:c.407C>T (ANG) | NP_001372201.1:p.Pro136Leu | |
| NM_001385273.1:c.407C>T (ANG) | NP_001372202.1:p.Pro136Leu | |
| NM_001385274.1:c.407C>T (ANG) | NP_001372203.1:p.Pro136Leu | |
| NR_174964.1:n.467-222G>A (EGILA) |