Linked Data
dbSNP Id:
rs1340448254
gnomAD v2:
17-61995312-T-C
gnomAD v3:
17-63917952-T-C
gnomAD v4:
17-63917952-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63917952T>C , CM000679.2:g.63917952T>C | GRCh38 |
| NC_000017.10:g.61995312T>C , CM000679.1:g.61995312T>C | GRCh37 |
| NC_000017.9:g.59349044T>C | NCBI36 |
| NG_011676.1:g.5887A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323322.10:c.292-28A>G (GH1) MANE Select | ENSP00000312673.5:n.292-28A>G | |
| ENST00000647774.1:c.570-28A>G | ||
| ENST00000323322.9:c.292-28A>G (GH1) | ENSP00000312673.5:n.292-28A>G | |
| ENST00000342364.8:c.171+394A>G (GH1) | ENSP00000339278.4:n.171+394A>G | |
| ENST00000351388.8:c.172-28A>G (GH1) | ENSP00000343791.4:n.172-28A>G | |
| ENST00000392824.8:c.10+815A>G (CSHL1) | ENSP00000376569.5:n.10+815A>G | |
| ENST00000458650.6:c.247-28A>G (GH1) | ENSP00000408486.2:n.247-28A>G | |
| ENST00000579711.1:n.653-28A>G (GH1) | ||
| ENST00000617086.1:c.11-446A>G (GH1) | ENSP00000481276.1:n.11-446A>G | |
| NM_000515.4:c.292-28A>G (GH1) | NP_000506.2:n.292-28A>G | |
| NM_022559.3:c.247-28A>G (GH1) | NP_072053.1:n.247-28A>G | |
| NM_022560.3:c.172-28A>G (GH1) | NP_072054.1:n.172-28A>G | |
| XM_011524612.1:c.292-28A>G (GH1) | XP_011522914.1:n.292-28A>G | |
| NM_000515.5:c.292-28A>G (GH1) MANE Select | NP_000506.2:n.292-28A>G | |
| NM_022559.4:c.247-28A>G (GH1) | NP_072053.1:n.247-28A>G | |
| NM_022560.4:c.172-28A>G (GH1) | NP_072054.1:n.172-28A>G |