Linked Data
dbSNP Id:
rs748754824
ExAC:
17:61995339 C / G
gnomAD v2:
17-61995339-C-G
gnomAD v4:
17-63917979-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63917979C>G , CM000679.2:g.63917979C>G | GRCh38 |
| NC_000017.10:g.61995339C>G , CM000679.1:g.61995339C>G | GRCh37 |
| NC_000017.9:g.59349071C>G | NCBI36 |
| NG_011676.1:g.5860G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323322.10:c.291+38G>C (GH1) MANE Select | ENSP00000312673.5:n.291+38G>C | |
| ENST00000647774.1:c.569+38G>C | ||
| ENST00000323322.9:c.291+38G>C (GH1) | ENSP00000312673.5:n.291+38G>C | |
| ENST00000342364.8:c.171+367G>C (GH1) | ENSP00000339278.4:n.171+367G>C | |
| ENST00000351388.8:c.172-55G>C (GH1) | ENSP00000343791.4:n.172-55G>C | |
| ENST00000392824.8:c.10+788G>C (CSHL1) | ENSP00000376569.5:n.10+788G>C | |
| ENST00000458650.6:c.246+38G>C (GH1) | ENSP00000408486.2:n.246+38G>C | |
| ENST00000579711.1:n.652+38G>C (GH1) | ||
| ENST00000617086.1:c.11-473G>C (GH1) | ENSP00000481276.1:n.11-473G>C | |
| NM_000515.4:c.291+38G>C (GH1) | NP_000506.2:n.291+38G>C | |
| NM_022559.3:c.246+38G>C (GH1) | NP_072053.1:n.246+38G>C | |
| NM_022560.3:c.172-55G>C (GH1) | NP_072054.1:n.172-55G>C | |
| XM_011524612.1:c.291+38G>C (GH1) | XP_011522914.1:n.291+38G>C | |
| NM_000515.5:c.291+38G>C (GH1) MANE Select | NP_000506.2:n.291+38G>C | |
| NM_022559.4:c.246+38G>C (GH1) | NP_072053.1:n.246+38G>C | |
| NM_022560.4:c.172-55G>C (GH1) | NP_072054.1:n.172-55G>C |