Linked Data
ClinVar Variation Id:
289503
dbSNP Id:
rs2001345
ExAC:
17:61996130 T / C
gnomAD v2:
17-61996130-T-C
gnomAD v3:
17-63918770-T-C
gnomAD v4:
17-63918770-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63918770T>C , CM000679.2:g.63918770T>C | GRCh38 |
| NC_000017.10:g.61996130T>C , CM000679.1:g.61996130T>C | GRCh37 |
| NC_000017.9:g.59349862T>C | NCBI36 |
| NG_011676.1:g.5069A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323322.10:c.7A>G (GH1) MANE Select | ENSP00000312673.5:p.Thr3Ala | |
| ENST00000647774.1:c.289-264A>G | ||
| ENST00000323322.9:c.7A>G (GH1) | ENSP00000312673.5:p.Thr3Ala | |
| ENST00000342364.8:c.7A>G (GH1) | ENSP00000339278.4:p.Thr3Ala | |
| ENST00000351388.8:c.7A>G (GH1) | ENSP00000343791.4:p.Thr3Ala | |
| ENST00000392824.8:c.7A>G (CSHL1) | ENSP00000376569.5:p.Thr3Ala | |
| ENST00000458650.6:c.7A>G (GH1) | ENSP00000408486.2:p.Thr3Ala | |
| ENST00000617086.1:c.7A>G (GH1) | ENSP00000481276.1:p.Thr3Ala | |
| NM_000515.4:c.7A>G (GH1) | NP_000506.2:p.Thr3Ala | |
| NM_022559.3:c.7A>G (GH1) | NP_072053.1:p.Thr3Ala | |
| NM_022560.3:c.7A>G (GH1) | NP_072054.1:p.Thr3Ala | |
| XM_011524612.1:c.6+1A>G (GH1) | XP_011522914.1:n.6+1A>G | |
| NM_000515.5:c.7A>G (GH1) MANE Select | NP_000506.2:p.Thr3Ala | |
| NM_022559.4:c.7A>G (GH1) | NP_072053.1:p.Thr3Ala | |
| NM_022560.4:c.7A>G (GH1) | NP_072054.1:p.Thr3Ala |