Linked Data
ClinVar Variation Id:
324461
ClinVar RCV Id:
RCV000265811
dbSNP Id:
rs754099689
ExAC:
17:61996163 C / A
gnomAD v2:
17-61996163-C-A
gnomAD v3:
17-63918803-C-A
gnomAD v4:
17-63918803-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63918803C>A , CM000679.2:g.63918803C>A | GRCh38 |
| NC_000017.10:g.61996163C>A , CM000679.1:g.61996163C>A | GRCh37 |
| NC_000017.9:g.59349895C>A | NCBI36 |
| NG_011676.1:g.5036G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323322.10:c.-27G>T (GH1) MANE Select | ENSP00000312673.5:n.-27G>T | |
| ENST00000647774.1:c.289-297G>T | ||
| ENST00000323322.9:c.-27G>T (GH1) | ENSP00000312673.5:n.-27G>T | |
| ENST00000342364.8:c.-27G>T (GH1) | ENSP00000339278.4:n.-27G>T | |
| ENST00000351388.8:c.-27G>T (GH1) | ENSP00000343791.4:n.-27G>T | |
| ENST00000392824.8:c.-27G>T (CSHL1) | ENSP00000376569.5:n.-27G>T | |
| ENST00000458650.6:c.-27G>T (GH1) | ENSP00000408486.2:n.-27G>T | |
| ENST00000617086.1:c.-27G>T (GH1) | ENSP00000481276.1:n.-27G>T | |
| NM_000515.4:c.-27G>T (GH1) | NP_000506.2:n.-27G>T | |
| NM_022559.3:c.-27G>T (GH1) | NP_072053.1:n.-27G>T | |
| NM_022560.3:c.-27G>T (GH1) | NP_072054.1:n.-27G>T | |
| NM_000515.5:c.-27G>T (GH1) MANE Select | NP_000506.2:n.-27G>T | |
| NM_022559.4:c.-27G>T (GH1) | NP_072053.1:n.-27G>T | |
| NM_022560.4:c.-27G>T (GH1) | NP_072054.1:n.-27G>T |