Linked Data
dbSNP Id:
rs1437127786
gnomAD v2:
11-1862823-A-G
gnomAD v3:
11-1841593-A-G
gnomAD v4:
11-1841593-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1841593A>G , CM000673.2:g.1841593A>G | GRCh38 |
| NC_000011.9:g.1862823A>G , CM000673.1:g.1862823A>G | GRCh37 |
| NC_000011.8:g.1819399A>G | NCBI36 |
| NG_011621.1:g.7591A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381911.6:c.*42A>G MANE Select | ENSP00000371336.1:n.*42A>G | |
| ENST00000252898.11:c.591A>G | ENSP00000252898.7:n.591A>G | |
| ENST00000381905.3:c.*42A>G | ENSP00000371330.3:n.*42A>G | |
| ENST00000381906.5:c.*42A>G | ENSP00000371331.1:n.*42A>G | |
| ENST00000381911.5:c.*42A>G | ENSP00000371336.1:n.*42A>G | |
| ENST00000617947.4:c.*42A>G | ENSP00000481242.1:n.*42A>G | |
| NM_001145829.1:c.*42A>G | NP_001139301.1:n.*42A>G | |
| NM_001145841.1:c.*42A>G | NP_001139313.1:n.*42A>G | |
| NM_003282.3:c.*42A>G | NP_003273.1:n.*42A>G | |
| NM_003282.4:c.*42A>G MANE Select | NP_003273.1:n.*42A>G | |
| NM_001145829.2:c.*42A>G | NP_001139301.1:n.*42A>G | |
| NM_001145841.2:c.*42A>G | NP_001139313.1:n.*42A>G |