Linked Data
dbSNP Id:
rs1451975578
gnomAD v2:
12-65633857-A-G
gnomAD v3:
12-65240077-A-G
gnomAD v4:
12-65240077-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65240077A>G , CM000674.2:g.65240077A>G | GRCh38 |
| NC_000012.11:g.65633857A>G , CM000674.1:g.65633857A>G | GRCh37 |
| NC_000012.10:g.63920124A>G | NCBI36 |
| NG_016210.1:g.75507A>G | |
| NG_016210.2:g.75507A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2023+47A>G MANE Select | ENSP00000308369.2:n.2023+47A>G | |
| ENST00000308330.2:c.2023+47A>G | ENSP00000308369.2:n.2023+47A>G | |
| NM_001167614.1:c.2020+47A>G | NP_001161086.1:n.2020+47A>G | |
| NM_014319.4:c.2023+47A>G | NP_055134.2:n.2023+47A>G | |
| NM_014319.5:c.2023+47A>G MANE Select | NP_055134.2:n.2023+47A>G | |
| NM_001167614.2:c.2020+47A>G | NP_001161086.1:n.2020+47A>G |