Linked Data
ClinVar Variation Id:
419876
dbSNP Id:
rs1064794165
gnomAD v2:
6-131903760-G-C
gnomAD v3:
6-131582620-G-C
gnomAD v4:
6-131582620-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131582620G>C , CM000668.2:g.131582620G>C | GRCh38 |
| NC_000006.11:g.131903760G>C , CM000668.1:g.131903760G>C | GRCh37 |
| NC_000006.10:g.131945453G>C | NCBI36 |
| NG_007086.2:g.14396G>C | |
| NG_031860.1:g.50604C>G | |
| NG_031860.2:g.50604C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368087.8:c.466-1G>C (ARG1) MANE Select | ENSP00000357066.3:n.466-1G>C | |
| ENST00000640973.1:c.466-1G>C (ARG1) | ENSP00000492623.1:n.466-1G>C | |
| ENST00000672233.1:c.412-1G>C (ARG1) | ENSP00000499826.1:n.412-1G>C | |
| ENST00000673234.1:c.*353-1G>C (ARG1) | ENSP00000499885.1:n.*353-1G>C | |
| ENST00000673427.1:c.306-440G>C (ARG1) | ENSP00000500160.1:n.306-440G>C | |
| ENST00000275196.5:n.450-1G>C (ARG1) | ||
| ENST00000354577.8:c.4095+5089C>G (MED23) | ENSP00000346588.4:n.4095+5089C>G | |
| ENST00000356962.2:c.490-1G>C (ARG1) | ENSP00000349446.2:n.490-1G>C | |
| ENST00000368087.7:c.466-1G>C (ARG1) | ENSP00000357066.3:n.466-1G>C | |
| NM_000045.3:c.466-1G>C (ARG1) | NP_000036.2:n.466-1G>C | |
| NM_001244438.1:c.490-1G>C (ARG1) | NP_001231367.1:n.490-1G>C | |
| NM_001270521.1:c.4077+5089C>G (MED23) | NP_001257450.1:n.4077+5089C>G | |
| NM_015979.3:c.4095+5089C>G (MED23) | NP_057063.2:n.4095+5089C>G | |
| XM_011535801.1:c.306-440G>C (ARG1) | XP_011534103.1:n.306-440G>C | |
| XM_011535801.2:c.306-440G>C (ARG1) | XP_011534103.1:n.306-440G>C | |
| NM_000045.4:c.466-1G>C (ARG1) MANE Select | NP_000036.2:n.466-1G>C | |
| NM_001244438.2:c.490-1G>C (ARG1) | NP_001231367.1:n.490-1G>C | |
| NM_001270521.2:c.4077+5089C>G (MED23) | NP_001257450.1:n.4077+5089C>G | |
| NM_001369020.1:c.306-440G>C (ARG1) | NP_001355949.1:n.306-440G>C | |
| NM_015979.4:c.4095+5089C>G (MED23) | NP_057063.2:n.4095+5089C>G | |
| NR_160934.1:n.450-1G>C (ARG1) |