Linked Data
dbSNP Id:
rs756329877
ExAC:
1:17349063 C / A
gnomAD v2:
1-17349063-C-A
gnomAD v4:
1-17022568-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022568C>A , CM000663.2:g.17022568C>A | GRCh38 |
| NC_000001.10:g.17349063C>A , CM000663.1:g.17349063C>A | GRCh37 |
| NC_000001.9:g.17221650C>A | NCBI36 |
| NG_012340.1:g.36603G>T , LRG_316:g.36603G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.594+40G>T | ENSP00000481376.2:n.594+40G>T | |
| ENST00000491274.6:c.723+40G>T | ENSP00000480482.2:n.723+40G>T | |
| ENST00000375499.8:c.765+40G>T MANE Select | ENSP00000364649.3:n.765+40G>T | |
| ENST00000375499.7:c.765+40G>T | ENSP00000364649.3:n.765+40G>T | |
| ENST00000475049.5:n.190+40G>T | ||
| ENST00000485092.5:n.429+40G>T | ||
| NM_003000.2:c.765+40G>T , LRG_316t1:c.765+40G>T | NP_002991.2:n.765+40G>T | |
| NM_003000.3:c.765+40G>T MANE Select | NP_002991.2:n.765+40G>T |