Linked Data
dbSNP Id:
rs1408143290
gnomAD v3:
6-112069679-G-A
gnomAD v4:
6-112069679-G-A
MyVariant Identifiers:
chr6:g.112069679G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069679G>A , CM000668.2:g.112069679G>A | GRCh38 |
| NC_000006.11:g.112390882G>A , CM000668.1:g.112390882G>A | GRCh37 |
| NC_000006.10:g.112497575G>A | NCBI36 |
| NG_011748.1:g.20605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.*59G>A MANE Select | ENSP00000357655.4:n.*59G>A | |
| ENST00000639360.1:c.1025G>A | ENSP00000491774.1:n.1025G>A | |
| ENST00000230529.9:c.*59G>A | ENSP00000230529.5:n.*59G>A | |
| ENST00000361714.5:c.*59G>A | ENSP00000354734.2:n.*59G>A | |
| ENST00000368666.6:c.*59G>A | ENSP00000357655.3:n.*59G>A | |
| ENST00000454589.5:c.*528G>A | ENSP00000395928.1:n.*528G>A | |
| ENST00000604763.5:c.*59G>A | ENSP00000473777.1:n.*59G>A | |
| ENST00000620524.3:n.1055G>A | ||
| NM_003880.3:c.*59G>A | NP_003871.1:n.*59G>A | |
| NM_198239.1:c.*59G>A | NP_937882.1:n.*59G>A | |
| NR_125353.1:n.1378G>A | ||
| NR_125354.1:n.1298G>A | ||
| XM_011536220.1:c.*59G>A | XP_011534522.1:n.*59G>A | |
| XM_011536221.1:c.*528G>A | XP_011534523.1:n.*528G>A | |
| XM_011536223.1:c.*59G>A | XP_011534525.1:n.*59G>A | |
| XM_011536223.3:c.*59G>A | XP_011534525.1:n.*59G>A | |
| XR_001743705.1:n.1726G>A | ||
| NM_003880.4:c.*59G>A | NP_003871.1:n.*59G>A | |
| NM_198239.2:c.*59G>A MANE Select | NP_937882.2:n.*59G>A | |
| NR_125353.2:n.1442G>A | ||
| NR_125354.3:n.1269G>A |