Linked Data
dbSNP Id:
rs374183106
gnomAD v2:
17-7978928-C-G
gnomAD v3:
17-8075610-C-G
gnomAD v4:
17-8075610-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075610C>G , CM000679.2:g.8075610C>G | GRCh38 |
| NC_000017.10:g.7978928C>G , CM000679.1:g.7978928C>G | GRCh37 |
| NC_000017.9:g.7919653C>G | NCBI36 |
| NG_007099.1:g.17094G>C | |
| NG_007099.2:g.17107G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1639G>C MANE Select | ENSP00000497784.1:p.Gly547Arg | |
| ENST00000649809.1:c.703G>C | ENSP00000496845.1:p.Gly235Arg | |
| ENST00000319144.4:c.1639G>C | ENSP00000315167.4:p.Gly547Arg | |
| ENST00000577351.5:n.479+565G>C | ||
| NM_001139.2:c.1639G>C | NP_001130.1:p.Gly547Arg | |
| NM_001139.3:c.1639G>C MANE Select | NP_001130.1:p.Gly547Arg |