Linked Data
dbSNP Id:
rs1883415
gnomAD v2:
6-24491475-A-C
gnomAD v3:
6-24491247-A-C
gnomAD v4:
6-24491247-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24491247A>C , CM000668.2:g.24491247A>C | GRCh38 |
| NC_000006.11:g.24491475A>C , CM000668.1:g.24491475A>C | GRCh37 |
| NC_000006.10:g.24599454A>C | NCBI36 |
| NG_008161.1:g.1279A>C | |
| NG_029888.2:g.3376T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474784.5:n.240-1750T>G | ||
| ENST00000475417.1:n.234-1750T>G | ||
| XM_011514509.1:c.45-1750T>G | XP_011512811.1:n.45-1750T>G | |
| XM_017010753.2:c.45-1750T>G | XP_016866242.1:n.45-1750T>G | |
| XR_002956277.1:n.267-1750T>G |