Linked Data
ClinVar Variation Id:
18074
dbSNP Id:
rs121909536
ExAC:
14:21161845 A / T
gnomAD v2:
14-21161845-A-T
gnomAD v3:
14-20693686-A-T
gnomAD v4:
14-20693686-A-T
COSMIC:
COSM77260
PubMed:
PMID:16501576
PMID:17886298
PMID:17900154
PMID:19153377
PMID:19363631
PMID:19444281
PMID:19449021
PMID:19488901
PMID:20577002
PMID:22190368
PMID:22292843
PMID:22384259
PMID:22499346
PMID:22522484
PMID:22645277
PMID:23047679
PMID:23155438
PMID:23447461
PMID:23463871
PMID:23665167
PMID:25382069
PMID:26255299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20693686A>T , CM000676.2:g.20693686A>T | GRCh38 |
| NC_000014.8:g.21161845A>T , CM000676.1:g.21161845A>T | GRCh37 |
| NC_000014.7:g.20231685A>T | NCBI36 |
| NG_008717.2:g.14510A>T , LRG_653:g.14510A>T | |
| NG_033053.1:g.14474A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397990.5:c.122A>T (ANG) MANE Select | ENSP00000381077.4:p.Lys41Ile | |
| ENST00000555835.3:c.-17-5669A>T (RNASE4) MANE Select | ENSP00000452245.1:n.-17-5669A>T | |
| ENST00000336811.10:c.122A>T (ANG) | ENSP00000336762.6:p.Lys41Ile | |
| ENST00000397990.4:c.122A>T (ANG) | ENSP00000381077.4:p.Lys41Ile | |
| ENST00000397995.2:c.-17-5669A>T (RNASE4) | ENSP00000381081.2:n.-17-5669A>T | |
| ENST00000553909.1:c.86+36A>T | ENSP00000477037.1:n.86+36A>T | |
| ENST00000554073.1:n.146-5180A>T (ANG) | ||
| ENST00000555597.1:c.-18+4812A>T (RNASE4) | ENSP00000451624.1:n.-18+4812A>T | |
| ENST00000555835.2:c.-17-5669A>T (RNASE4) | ENSP00000452245.1:n.-17-5669A>T | |
| NM_001097577.2:c.122A>T (ANG) | NP_001091046.1:p.Lys41Ile | |
| NM_001145.4:c.122A>T , LRG_653t1:c.122A>T (ANG) | NP_001136.1:p.Lys41Ile | |
| NM_001282192.1:c.-18+36A>T (RNASE4) | NP_001269121.1:n.-18+36A>T | |
| NM_001282193.1:c.-17-5669A>T (RNASE4) | NP_001269122.1:n.-17-5669A>T | |
| NM_002937.4:c.-17-5669A>T (RNASE4) | NP_002928.1:n.-17-5669A>T | |
| NM_194431.2:c.-18+4812A>T (RNASE4) | NP_919412.1:n.-18+4812A>T | |
| NM_002937.5:c.-17-5669A>T (RNASE4) MANE Select | NP_002928.1:n.-17-5669A>T | |
| NM_001097577.3:c.122A>T (ANG) MANE Select | NP_001091046.1:p.Lys41Ile | |
| NM_001282192.2:c.-18+36A>T (RNASE4) | NP_001269121.1:n.-18+36A>T | |
| NM_001282193.2:c.-17-5669A>T (RNASE4) | NP_001269122.1:n.-17-5669A>T | |
| NM_194431.3:c.-18+4812A>T (RNASE4) | NP_919412.1:n.-18+4812A>T | |
| NM_001385271.1:c.122A>T (ANG) | NP_001372200.1:p.Lys41Ile | |
| NM_001385272.1:c.122A>T (ANG) | NP_001372201.1:p.Lys41Ile | |
| NM_001385273.1:c.122A>T (ANG) | NP_001372202.1:p.Lys41Ile | |
| NM_001385274.1:c.122A>T (ANG) | NP_001372203.1:p.Lys41Ile | |
| NR_174964.1:n.530T>A (EGILA) |