Linked Data
dbSNP Id:
rs1796882335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.616020C>T , CM000670.2:g.616020C>T | GRCh38 |
| NC_000008.10:g.566020C>T , CM000670.1:g.566020C>T | GRCh37 |
| NC_000008.9:g.556020C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522706.5:c.977-736G>A | ENSP00000428635.1:n.977-736G>A | |
| ENST00000523415.5:c.2359G>A | ||
| NM_001303100.1:c.*551G>A | NP_001290029.1:n.*551G>A | |
| XM_011534732.1:c.1442-736G>A | XP_011533034.1:n.1442-736G>A | |
| XM_011534735.1:c.*1986G>A | XP_011533037.1:n.*1986G>A | |
| XM_011534735.3:c.*1986G>A | XP_011533037.1:n.*1986G>A | |
| XM_017013124.2:c.1457-736G>A | XP_016868613.1:n.1457-736G>A | |
| NM_001303100.2:c.*551G>A | NP_001290029.1:n.*551G>A |