Linked Data
ClinVar Variation Id:
15983
dbSNP Id:
rs137853223
gnomAD v2:
17-61994697-C-T
gnomAD v3:
17-63917337-C-T
gnomAD v4:
17-63917337-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63917337C>T , CM000679.2:g.63917337C>T | GRCh38 |
| NC_000017.10:g.61994697C>T , CM000679.1:g.61994697C>T | GRCh37 |
| NC_000017.9:g.59348429C>T | NCBI36 |
| NG_011676.1:g.6502G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323322.10:c.626G>A (GH1) MANE Select | ENSP00000312673.5:p.Arg209His | |
| ENST00000647774.1:c.904G>A | ||
| ENST00000323322.9:c.626G>A (GH1) | ENSP00000312673.5:p.Arg209His | |
| ENST00000342364.8:c.341G>A (GH1) | ENSP00000339278.4:p.Arg114His | |
| ENST00000351388.8:c.506G>A (GH1) | ENSP00000343791.4:p.Arg169His | |
| ENST00000392824.8:c.10+1430G>A (CSHL1) | ENSP00000376569.5:n.10+1430G>A | |
| ENST00000458650.6:c.581G>A (GH1) | ENSP00000408486.2:p.Arg194His | |
| ENST00000617086.1:c.*87G>A (GH1) | ENSP00000481276.1:n.*87G>A | |
| NM_000515.4:c.626G>A (GH1) | NP_000506.2:p.Arg209His | |
| NM_022559.3:c.581G>A (GH1) | NP_072053.1:p.Arg194His | |
| NM_022560.3:c.506G>A (GH1) | NP_072054.1:p.Arg169His | |
| XM_011524612.1:c.626G>A (GH1) | XP_011522914.1:p.Arg209His | |
| XR_002958148.1:n.341-260C>T | ||
| NM_000515.5:c.626G>A (GH1) MANE Select | NP_000506.2:p.Arg209His | |
| NM_022559.4:c.581G>A (GH1) | NP_072053.1:p.Arg194His | |
| NM_022560.4:c.506G>A (GH1) | NP_072054.1:p.Arg169His |