Linked Data
ClinVar Variation Id:
324460
dbSNP Id:
rs6173
ExAC:
17:61996140 A / C
gnomAD v2:
17-61996140-A-C
gnomAD v3:
17-63918780-A-C
gnomAD v4:
17-63918780-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63918780A>C , CM000679.2:g.63918780A>C | GRCh38 |
| NC_000017.10:g.61996140A>C , CM000679.1:g.61996140A>C | GRCh37 |
| NC_000017.9:g.59349872A>C | NCBI36 |
| NG_011676.1:g.5059T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323322.10:c.-4T>G (GH1) MANE Select | ENSP00000312673.5:n.-4T>G | |
| ENST00000647774.1:c.289-274T>G | ||
| ENST00000323322.9:c.-4T>G (GH1) | ENSP00000312673.5:n.-4T>G | |
| ENST00000342364.8:c.-4T>G (GH1) | ENSP00000339278.4:n.-4T>G | |
| ENST00000351388.8:c.-4T>G (GH1) | ENSP00000343791.4:n.-4T>G | |
| ENST00000392824.8:c.-4T>G (CSHL1) | ENSP00000376569.5:n.-4T>G | |
| ENST00000458650.6:c.-4T>G (GH1) | ENSP00000408486.2:n.-4T>G | |
| ENST00000617086.1:c.-4T>G (GH1) | ENSP00000481276.1:n.-4T>G | |
| NM_000515.4:c.-4T>G (GH1) | NP_000506.2:n.-4T>G | |
| NM_022559.3:c.-4T>G (GH1) | NP_072053.1:n.-4T>G | |
| NM_022560.3:c.-4T>G (GH1) | NP_072054.1:n.-4T>G | |
| XM_011524612.1:c.-4T>G (GH1) | XP_011522914.1:n.-4T>G | |
| NM_000515.5:c.-4T>G (GH1) MANE Select | NP_000506.2:n.-4T>G | |
| NM_022559.4:c.-4T>G (GH1) | NP_072053.1:n.-4T>G | |
| NM_022560.4:c.-4T>G (GH1) | NP_072054.1:n.-4T>G |