Linked Data
ClinVar Variation Id:
1099274
ClinVar RCV Id:
RCV001421475
dbSNP Id:
rs750083218
ExAC:
6:131904964 A / G
gnomAD v2:
6-131904964-A-G
gnomAD v3:
6-131583824-A-G
gnomAD v4:
6-131583824-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583824A>G , CM000668.2:g.131583824A>G | GRCh38 |
| NC_000006.11:g.131904964A>G , CM000668.1:g.131904964A>G | GRCh37 |
| NC_000006.10:g.131946657A>G | NCBI36 |
| NG_007086.2:g.15600A>G | |
| NG_031860.1:g.49400T>C | |
| NG_031860.2:g.49400T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368087.8:c.885A>G (ARG1) MANE Select | ENSP00000357066.3:p.Thr295= | |
| ENST00000640973.1:c.627A>G (ARG1) | ENSP00000492623.1:p.Thr209= | |
| ENST00000672233.1:c.831A>G (ARG1) | ENSP00000499826.1:p.Thr277= | |
| ENST00000673234.1:c.*772A>G (ARG1) | ENSP00000499885.1:n.*772A>G | |
| ENST00000673427.1:c.630A>G (ARG1) | ENSP00000500160.1:p.Thr210= | |
| ENST00000354577.8:c.4095+3885T>C (MED23) | ENSP00000346588.4:n.4095+3885T>C | |
| ENST00000356962.2:c.909A>G (ARG1) | ENSP00000349446.2:p.Thr303= | |
| ENST00000368087.7:c.885A>G (ARG1) | ENSP00000357066.3:p.Thr295= | |
| NM_000045.3:c.885A>G (ARG1) | NP_000036.2:p.Thr295= | |
| NM_001244438.1:c.909A>G (ARG1) | NP_001231367.1:p.Thr303= | |
| NM_001270521.1:c.4077+3885T>C (MED23) | NP_001257450.1:n.4077+3885T>C | |
| NM_015979.3:c.4095+3885T>C (MED23) | NP_057063.2:n.4095+3885T>C | |
| XM_011535801.1:c.630A>G (ARG1) | XP_011534103.1:p.Thr210= | |
| XM_011535801.2:c.630A>G (ARG1) | XP_011534103.1:p.Thr210= | |
| NM_000045.4:c.885A>G (ARG1) MANE Select | NP_000036.2:p.Thr295= | |
| NM_001244438.2:c.909A>G (ARG1) | NP_001231367.1:p.Thr303= | |
| NM_001270521.2:c.4077+3885T>C (MED23) | NP_001257450.1:n.4077+3885T>C | |
| NM_001369020.1:c.630A>G (ARG1) | NP_001355949.1:p.Thr210= | |
| NM_015979.4:c.4095+3885T>C (MED23) | NP_057063.2:n.4095+3885T>C | |
| NR_160934.1:n.869A>G (ARG1) |