Linked Data
dbSNP Id:
rs4538475
gnomAD v2:
4-15737937-A-G
gnomAD v3:
4-15736314-A-G
gnomAD v4:
4-15736314-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15736314A>G , CM000666.2:g.15736314A>G | GRCh38 |
| NC_000004.11:g.15737937A>G , CM000666.1:g.15737937A>G | GRCh37 |
| NC_000004.10:g.15347035A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000514445.5:c.480+183A>G | ENSP00000420925.1:n.480+183A>G | |
| ENST00000514989.1:c.275-1473A>G | ||
| XM_005248186.1:c.852-1473A>G | XP_005248243.1:n.852-1473A>G | |
| XM_011513878.1:c.851+13380A>G | XP_011512180.1:n.851+13380A>G | |
| XM_011513879.1:c.852-1394A>G | XP_011512181.1:n.852-1394A>G | |
| XM_005248186.2:c.852-1473A>G | XP_005248243.1:n.852-1473A>G | |
| XM_011513878.3:c.851+13380A>G | XP_011512180.1:n.851+13380A>G | |
| XM_011513879.2:c.852-1394A>G | XP_011512181.1:n.852-1394A>G | |
| XM_017008565.2:c.*12+183A>G | XP_016864054.1:n.*12+183A>G | |
| XM_017008566.2:c.851+13380A>G | XP_016864055.1:n.851+13380A>G |