Linked Data
ClinVar Variation Id:
15751
ClinVar RCV Id:
RCV000017061
dbSNP Id:
rs33991910
gnomAD v3:
16-177406-C-G
gnomAD v4:
16-177406-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177406C>G , CM000678.2:g.177406C>G | GRCh38 |
| NC_000016.9:g.227405C>G , CM000678.1:g.227405C>G | GRCh37 |
| NC_000016.8:g.167405C>G | NCBI36 |
| NG_000006.1:g.38269C>G | |
| NG_059186.1:g.5756C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.424C>G MANE Select | ENSP00000322421.5:p.Arg142Gly | |
| ENST00000397797.1:c.328C>G | ENSP00000380899.1:p.Arg110Gly | |
| ENST00000472694.1:n.560C>G | ||
| NM_000558.4:c.424C>G | NP_000549.1:p.Arg142Gly | |
| NM_000558.5:c.424C>G MANE Select | NP_000549.1:p.Arg142Gly |