Linked Data
dbSNP Id:
rs201473907
ExAC:
1:109807015 C / G
gnomAD v2:
1-109807015-C-G
gnomAD v3:
1-109264393-C-G
gnomAD v4:
1-109264393-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264393C>G , CM000663.2:g.109264393C>G | GRCh38 |
| NC_000001.10:g.109807015C>G , CM000663.1:g.109807015C>G | GRCh37 |
| NC_000001.9:g.109608538C>G | NCBI36 |
| NG_052669.1:g.19689C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5289+28C>G MANE Select | ENSP00000271332.3:n.5289+28C>G | |
| ENST00000271332.3:c.5289+28C>G | ENSP00000271332.3:n.5289+28C>G | |
| NM_001408.2:c.5289+28C>G | NP_001399.1:n.5289+28C>G | |
| XM_005270580.3:c.5289+28C>G | XP_005270637.1:n.5289+28C>G | |
| NM_001408.3:c.5289+28C>G MANE Select | NP_001399.1:n.5289+28C>G |