Linked Data
dbSNP Id:
rs6993620
gnomAD v2:
8-565831-A-C
gnomAD v3:
8-615831-A-C
gnomAD v4:
8-615831-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.615831A>C , CM000670.2:g.615831A>C | GRCh38 |
| NC_000008.10:g.565831A>C , CM000670.1:g.565831A>C | GRCh37 |
| NC_000008.9:g.555831A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522706.5:c.977-547T>G | ENSP00000428635.1:n.977-547T>G | |
| ENST00000523415.5:c.2548T>G | ||
| NM_001303100.1:c.*740T>G | NP_001290029.1:n.*740T>G | |
| XM_011534732.1:c.1442-547T>G | XP_011533034.1:n.1442-547T>G | |
| XM_011534735.1:c.*2175T>G | XP_011533037.1:n.*2175T>G | |
| XM_011534735.3:c.*2175T>G | XP_011533037.1:n.*2175T>G | |
| XM_017013124.2:c.1457-547T>G | XP_016868613.1:n.1457-547T>G | |
| NM_001303100.2:c.*740T>G | NP_001290029.1:n.*740T>G |