Linked Data
ClinVar Variation Id:
1047072
dbSNP Id:
rs775225648
ExAC:
6:131905005 A / G
gnomAD v2:
6-131905005-A-G
gnomAD v3:
6-131583865-A-G
gnomAD v4:
6-131583865-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583865A>G , CM000668.2:g.131583865A>G | GRCh38 |
| NC_000006.11:g.131905005A>G , CM000668.1:g.131905005A>G | GRCh37 |
| NC_000006.10:g.131946698A>G | NCBI36 |
| NG_007086.2:g.15641A>G | |
| NG_031860.1:g.49359T>C | |
| NG_031860.2:g.49359T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.926A>G (ARG1) MANE Select | ENSP00000357066.3:p.Glu309Gly | |
| ENST00000640973.1:c.668A>G (ARG1) | ENSP00000492623.1:p.Glu223Gly | |
| ENST00000672233.1:c.872A>G (ARG1) | ENSP00000499826.1:p.Glu291Gly | |
| ENST00000673234.1:c.*813A>G (ARG1) | ENSP00000499885.1:n.*813A>G | |
| ENST00000673427.1:c.671A>G (ARG1) | ENSP00000500160.1:p.Glu224Gly | |
| ENST00000354577.8:c.4095+3844T>C (MED23) | ENSP00000346588.4:n.4095+3844T>C | |
| ENST00000356962.2:c.950A>G (ARG1) | ENSP00000349446.2:p.Glu317Gly | |
| ENST00000368087.7:c.926A>G (ARG1) | ENSP00000357066.3:p.Glu309Gly | |
| NM_000045.3:c.926A>G (ARG1) | NP_000036.2:p.Glu309Gly | |
| NM_001244438.1:c.950A>G (ARG1) | NP_001231367.1:p.Glu317Gly | |
| NM_001270521.1:c.4077+3844T>C (MED23) | NP_001257450.1:n.4077+3844T>C | |
| NM_015979.3:c.4095+3844T>C (MED23) | NP_057063.2:n.4095+3844T>C | |
| XM_011535801.1:c.671A>G (ARG1) | XP_011534103.1:p.Glu224Gly | |
| XM_011535801.2:c.671A>G (ARG1) | XP_011534103.1:p.Glu224Gly | |
| NM_000045.4:c.926A>G (ARG1) MANE Select | NP_000036.2:p.Glu309Gly | |
| NM_001244438.2:c.950A>G (ARG1) | NP_001231367.1:p.Glu317Gly | |
| NM_001270521.2:c.4077+3844T>C (MED23) | NP_001257450.1:n.4077+3844T>C | |
| NM_001369020.1:c.671A>G (ARG1) | NP_001355949.1:p.Glu224Gly | |
| NM_015979.4:c.4095+3844T>C (MED23) | NP_057063.2:n.4095+3844T>C | |
| NR_160934.1:n.910A>G (ARG1) |