Linked Data
dbSNP Id:
rs2302009
ExAC:
7:75398998 A / C
gnomAD v2:
7-75398998-A-C
gnomAD v3:
7-75769680-A-C
gnomAD v4:
7-75769680-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75769680A>C , CM000669.2:g.75769680A>C | GRCh38 |
| NC_000007.13:g.75398998A>C , CM000669.1:g.75398998A>C | GRCh37 |
| NC_000007.12:g.75236934A>C | NCBI36 |
| NG_015989.1:g.25067T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000005180.9:c.*13T>G MANE Select | ENSP00000005180.4:n.*13T>G | |
| ENST00000005180.8:c.*13T>G | ENSP00000005180.4:n.*13T>G | |
| ENST00000394905.2:c.*13T>G | ENSP00000378365.2:n.*13T>G | |
| NM_006072.4:c.*13T>G | NP_006063.1:n.*13T>G | |
| XM_017011671.1:c.*13T>G | XP_016867160.1:n.*13T>G | |
| XM_017011672.1:c.*13T>G | XP_016867161.1:n.*13T>G | |
| NM_001371936.1:c.*13T>G | NP_001358865.1:n.*13T>G | |
| NM_001371938.1:c.*13T>G MANE Select | NP_001358867.1:n.*13T>G |