Linked Data
ClinVar Variation Id:
355319
ClinVar RCV Id:
RCV000330678
dbSNP Id:
rs886061060
gnomAD v2:
6-131900432-T-C
gnomAD v3:
6-131579292-T-C
gnomAD v4:
6-131579292-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131579292T>C , CM000668.2:g.131579292T>C | GRCh38 |
| NC_000006.11:g.131900432T>C , CM000668.1:g.131900432T>C | GRCh37 |
| NC_000006.10:g.131942125T>C | NCBI36 |
| NG_007086.2:g.11068T>C | |
| NG_031860.1:g.53932A>G | |
| NG_031860.2:g.53932A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.305+7T>C (ARG1) MANE Select | ENSP00000357066.3:n.305+7T>C | |
| ENST00000640973.1:c.305+7T>C (ARG1) | ENSP00000492623.1:n.305+7T>C | |
| ENST00000672052.1:n.559T>C (ARG1) | ||
| ENST00000672233.1:c.251+7T>C (ARG1) | ENSP00000499826.1:n.251+7T>C | |
| ENST00000673234.1:c.*192+7T>C (ARG1) | ENSP00000499885.1:n.*192+7T>C | |
| ENST00000673427.1:c.305+7T>C (ARG1) | ENSP00000500160.1:n.305+7T>C | |
| ENST00000275196.5:n.289+7T>C (ARG1) | ||
| ENST00000354577.8:c.4096-4997A>G (MED23) | ENSP00000346588.4:n.4096-4997A>G | |
| ENST00000356962.2:c.329+7T>C (ARG1) | ENSP00000349446.2:n.329+7T>C | |
| ENST00000368087.7:c.305+7T>C (ARG1) | ENSP00000357066.3:n.305+7T>C | |
| ENST00000469293.1:n.328T>C (ARG1) | ||
| ENST00000484820.1:n.284T>C (ARG1) | ||
| ENST00000498260.1:n.353T>C (ARG1) | ||
| NM_000045.3:c.305+7T>C (ARG1) | NP_000036.2:n.305+7T>C | |
| NM_001244438.1:c.329+7T>C (ARG1) | NP_001231367.1:n.329+7T>C | |
| NM_001270521.1:c.4078-4997A>G (MED23) | NP_001257450.1:n.4078-4997A>G | |
| NM_015979.3:c.4096-4997A>G (MED23) | NP_057063.2:n.4096-4997A>G | |
| XM_011535801.1:c.305+7T>C (ARG1) | XP_011534103.1:n.305+7T>C | |
| XM_011535801.2:c.305+7T>C (ARG1) | XP_011534103.1:n.305+7T>C | |
| NM_000045.4:c.305+7T>C (ARG1) MANE Select | NP_000036.2:n.305+7T>C | |
| NM_001244438.2:c.329+7T>C (ARG1) | NP_001231367.1:n.329+7T>C | |
| NM_001270521.2:c.4078-4997A>G (MED23) | NP_001257450.1:n.4078-4997A>G | |
| NM_001369020.1:c.305+7T>C (ARG1) | NP_001355949.1:n.305+7T>C | |
| NM_015979.4:c.4096-4997A>G (MED23) | NP_057063.2:n.4096-4997A>G | |
| NR_160934.1:n.289+7T>C (ARG1) |