Linked Data
dbSNP Id:
rs187291289
gnomAD v2:
1-242052968-A-G
gnomAD v3:
1-241889666-A-G
gnomAD v4:
1-241889666-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241889666A>G , CM000663.2:g.241889666A>G | GRCh38 |
| NC_000001.10:g.242052968A>G , CM000663.1:g.242052968A>G | GRCh37 |
| NC_000001.9:g.240119591A>G | NCBI36 |
| NG_029100.1:g.46476A>G | |
| NG_029100.2:g.46476A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366548.8:c.*66A>G MANE Select | ENSP00000355506.3:n.*66A>G | |
| ENST00000348581.9:c.*66A>G | ENSP00000311873.5:n.*66A>G | |
| ENST00000366548.7:c.*66A>G | ENSP00000355506.3:n.*66A>G | |
| ENST00000518483.5:c.*193A>G | ENSP00000430251.1:n.*193A>G | |
| ENST00000518741.1:n.152-2858A>G | ||
| NM_003686.4:c.*193A>G | NP_003677.4:n.*193A>G | |
| NM_006027.4:c.*66A>G | NP_006018.4:n.*66A>G | |
| NM_130398.3:c.*66A>G | NP_569082.2:n.*66A>G | |
| XM_005273350.2:c.*66A>G | XP_005273407.1:n.*66A>G | |
| XM_006711840.1:c.*66A>G | XP_006711903.1:n.*66A>G | |
| XM_011544321.1:c.*66A>G | XP_011542623.1:n.*66A>G | |
| XM_011544322.1:c.*66A>G | XP_011542624.1:n.*66A>G | |
| XM_011544323.1:c.*66A>G | XP_011542625.1:n.*66A>G | |
| XM_011544324.1:c.*66A>G | XP_011542626.1:n.*66A>G | |
| XM_011544325.1:c.*66A>G | XP_011542627.1:n.*66A>G | |
| XR_949162.1:n.2990+4159A>G | ||
| NM_001319224.1:c.*66A>G | NP_001306153.1:n.*66A>G | |
| XM_006711840.2:c.*66A>G | XP_006711903.1:n.*66A>G | |
| XM_011544321.2:c.*66A>G | XP_011542623.1:n.*66A>G | |
| XM_011544323.2:c.*66A>G | XP_011542625.1:n.*66A>G | |
| XM_011544324.2:c.*66A>G | XP_011542626.1:n.*66A>G | |
| XM_011544325.2:c.*66A>G | XP_011542627.1:n.*66A>G | |
| XM_017002793.2:c.*66A>G | XP_016858282.1:n.*66A>G | |
| NM_130398.4:c.*66A>G MANE Select | NP_569082.2:n.*66A>G | |
| NM_001319224.2:c.*66A>G | NP_001306153.1:n.*66A>G |