Linked Data
dbSNP Id:
rs149634290
gnomAD v2:
8-566086-G-A
gnomAD v3:
8-616086-G-A
gnomAD v4:
8-616086-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.616086G>A , CM000670.2:g.616086G>A | GRCh38 |
| NC_000008.10:g.566086G>A , CM000670.1:g.566086G>A | GRCh37 |
| NC_000008.9:g.556086G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522706.5:c.977-802C>T | ENSP00000428635.1:n.977-802C>T | |
| ENST00000523415.5:c.2293C>T | ||
| NM_001303100.1:c.*485C>T | NP_001290029.1:n.*485C>T | |
| XM_011534732.1:c.1442-802C>T | XP_011533034.1:n.1442-802C>T | |
| XM_011534735.1:c.*1920C>T | XP_011533037.1:n.*1920C>T | |
| XM_011534735.3:c.*1920C>T | XP_011533037.1:n.*1920C>T | |
| XM_017013124.2:c.1457-802C>T | XP_016868613.1:n.1457-802C>T | |
| NM_001303100.2:c.*485C>T | NP_001290029.1:n.*485C>T |