Linked Data
dbSNP Id:
rs986976451
gnomAD v2:
7-107556071-G-C
gnomAD v3:
7-107915626-G-C
gnomAD v4:
7-107915626-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107915626G>C , CM000669.2:g.107915626G>C | GRCh38 |
| NC_000007.13:g.107556071G>C , CM000669.1:g.107556071G>C | GRCh37 |
| NC_000007.12:g.107343307G>C | NCBI36 |
| NG_008045.1:g.29486G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.805G>C MANE Select | ENSP00000205402.3:p.Gly269Arg | |
| ENST00000205402.9:c.805G>C | ENSP00000205402.3:p.Gly269Arg | |
| ENST00000415325.5:c.*479G>C | ENSP00000402593.1:n.*479G>C | |
| ENST00000417551.5:c.805G>C | ENSP00000390667.1:p.Gly269Arg | |
| ENST00000437604.6:c.661G>C | ENSP00000387542.2:p.Gly221Arg | |
| ENST00000440410.5:c.736G>C | ENSP00000417016.1:p.Gly246Arg | |
| NM_000108.4:c.805G>C | NP_000099.2:p.Gly269Arg | |
| NM_001289750.1:c.508G>C | NP_001276679.1:p.Gly170Arg | |
| NM_001289751.1:c.736G>C | NP_001276680.1:p.Gly246Arg | |
| NM_001289752.1:c.661G>C | NP_001276681.1:p.Gly221Arg | |
| NM_000108.5:c.805G>C MANE Select | NP_000099.2:p.Gly269Arg |