Linked Data
ClinVar Variation Id:
324458
ClinVar RCV Id:
RCV000266675
dbSNP Id:
rs754207595
ExAC:
17:61995811 T / C
gnomAD v2:
17-61995811-T-C
gnomAD v3:
17-63918451-T-C
gnomAD v4:
17-63918451-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63918451T>C , CM000679.2:g.63918451T>C | GRCh38 |
| NC_000017.10:g.61995811T>C , CM000679.1:g.61995811T>C | GRCh37 |
| NC_000017.9:g.59349543T>C | NCBI36 |
| NG_011676.1:g.5388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323322.10:c.66A>G (GH1) MANE Select | ENSP00000312673.5:p.Gln22= | |
| ENST00000647774.1:c.344A>G | ||
| ENST00000323322.9:c.66A>G (GH1) | ENSP00000312673.5:p.Gln22= | |
| ENST00000342364.8:c.66A>G (GH1) | ENSP00000339278.4:p.Gln22= | |
| ENST00000351388.8:c.66A>G (GH1) | ENSP00000343791.4:p.Gln22= | |
| ENST00000392824.8:c.10+316A>G (CSHL1) | ENSP00000376569.5:n.10+316A>G | |
| ENST00000458650.6:c.66A>G (GH1) | ENSP00000408486.2:p.Gln22= | |
| ENST00000579711.1:n.218A>G (GH1) | ||
| ENST00000617086.1:c.10+316A>G (GH1) | ENSP00000481276.1:n.10+316A>G | |
| NM_000515.4:c.66A>G (GH1) | NP_000506.2:p.Gln22= | |
| NM_022559.3:c.66A>G (GH1) | NP_072053.1:p.Gln22= | |
| NM_022560.3:c.66A>G (GH1) | NP_072054.1:p.Gln22= | |
| XM_011524612.1:c.66A>G (GH1) | XP_011522914.1:p.Gln22= | |
| NM_000515.5:c.66A>G (GH1) MANE Select | NP_000506.2:p.Gln22= | |
| NM_022559.4:c.66A>G (GH1) | NP_072053.1:p.Gln22= | |
| NM_022560.4:c.66A>G (GH1) | NP_072054.1:p.Gln22= |