Linked Data
dbSNP Id:
rs7742659
gnomAD v2:
6-150720129-A-G
gnomAD v3:
6-150398993-A-G
gnomAD v4:
6-150398993-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150398993A>G , CM000668.2:g.150398993A>G | GRCh38 |
| NC_000006.11:g.150720129A>G , CM000668.1:g.150720129A>G | GRCh37 |
| NC_000006.10:g.150761822A>G | NCBI36 |
| NG_016007.1:g.35102A>G | |
| NG_016007.2:g.35102A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344419.8:c.*756A>G MANE Select | ENSP00000343763.4:n.*756A>G | |
| ENST00000229447.9:c.*856A>G | ENSP00000229447.5:n.*856A>G | |
| ENST00000344419.7:c.*756A>G | ENSP00000343763.3:n.*756A>G | |
| NM_001164694.1:c.*856A>G | NP_001158166.1:n.*856A>G | |
| NM_001164695.1:c.*943A>G | NP_001158167.1:n.*943A>G | |
| NM_203395.2:c.*756A>G | NP_981932.1:n.*756A>G | |
| NM_001318495.1:c.*756A>G | NP_001305424.1:n.*756A>G | |
| NR_134655.1:n.1939A>G | ||
| NM_001164694.2:c.*856A>G | NP_001158166.1:n.*856A>G | |
| NM_001164695.2:c.*943A>G | NP_001158167.1:n.*943A>G | |
| NM_001318495.2:c.*756A>G | NP_001305424.1:n.*756A>G | |
| NM_203395.3:c.*756A>G MANE Select | NP_981932.1:n.*756A>G | |
| NR_134655.2:n.1819A>G |