Linked Data
dbSNP Id:
rs1284521039
gnomAD v2:
1-17353999-C-T
gnomAD v3:
1-17027504-C-T
gnomAD v4:
1-17027504-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027504C>T , CM000663.2:g.17027504C>T | GRCh38 |
| NC_000001.10:g.17353999C>T , CM000663.1:g.17353999C>T | GRCh37 |
| NC_000001.9:g.17226586C>T | NCBI36 |
| NG_012340.1:g.31667G>A , LRG_316:g.31667G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.369+245G>A | ENSP00000481376.2:n.369+245G>A | |
| ENST00000491274.6:c.498+245G>A | ENSP00000480482.2:n.498+245G>A | |
| ENST00000375499.8:c.540+245G>A MANE Select | ENSP00000364649.3:n.540+245G>A | |
| ENST00000375499.7:c.540+245G>A | ENSP00000364649.3:n.540+245G>A | |
| ENST00000485515.5:n.474+245G>A | ||
| ENST00000491274.5:c.498+245G>A | ENSP00000480482.1:n.498+245G>A | |
| NM_003000.2:c.540+245G>A , LRG_316t1:c.540+245G>A | NP_002991.2:n.540+245G>A | |
| NM_003000.3:c.540+245G>A MANE Select | NP_002991.2:n.540+245G>A |