Linked Data
dbSNP Id:
rs782023330
ExAC:
6:112390868 A / G
gnomAD v2:
6-112390868-A-G
gnomAD v3:
6-112069665-A-G
gnomAD v4:
6-112069665-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069665A>G , CM000668.2:g.112069665A>G | GRCh38 |
| NC_000006.11:g.112390868A>G , CM000668.1:g.112390868A>G | GRCh37 |
| NC_000006.10:g.112497561A>G | NCBI36 |
| NG_011748.1:g.20591A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.*45A>G MANE Select | ENSP00000357655.4:n.*45A>G | |
| ENST00000639360.1:c.1011A>G | ENSP00000491774.1:n.1011A>G | |
| ENST00000230529.9:c.*45A>G | ENSP00000230529.5:n.*45A>G | |
| ENST00000361714.5:c.*45A>G | ENSP00000354734.2:n.*45A>G | |
| ENST00000368666.6:c.*45A>G | ENSP00000357655.3:n.*45A>G | |
| ENST00000454589.5:c.*514A>G | ENSP00000395928.1:n.*514A>G | |
| ENST00000604763.5:c.*45A>G | ENSP00000473777.1:n.*45A>G | |
| ENST00000620524.3:n.1041A>G | ||
| NM_003880.3:c.*45A>G | NP_003871.1:n.*45A>G | |
| NM_198239.1:c.*45A>G | NP_937882.1:n.*45A>G | |
| NR_125353.1:n.1364A>G | ||
| NR_125354.1:n.1284A>G | ||
| XM_011536220.1:c.*45A>G | XP_011534522.1:n.*45A>G | |
| XM_011536221.1:c.*514A>G | XP_011534523.1:n.*514A>G | |
| XM_011536223.1:c.*45A>G | XP_011534525.1:n.*45A>G | |
| XM_011536223.3:c.*45A>G | XP_011534525.1:n.*45A>G | |
| XR_001743705.1:n.1712A>G | ||
| NM_003880.4:c.*45A>G | NP_003871.1:n.*45A>G | |
| NM_198239.2:c.*45A>G MANE Select | NP_937882.2:n.*45A>G | |
| NR_125353.2:n.1428A>G | ||
| NR_125354.3:n.1255A>G |