Linked Data
dbSNP Id:
rs371557638
ExAC:
17:61995089 C / G
gnomAD v2:
17-61995089-C-G
gnomAD v3:
17-63917729-C-G
gnomAD v4:
17-63917729-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63917729C>G , CM000679.2:g.63917729C>G | GRCh38 |
| NC_000017.10:g.61995089C>G , CM000679.1:g.61995089C>G | GRCh37 |
| NC_000017.9:g.59348821C>G | NCBI36 |
| NG_011676.1:g.6110G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323322.10:c.456+31G>C (GH1) MANE Select | ENSP00000312673.5:n.456+31G>C | |
| ENST00000647774.1:c.734+31G>C | ||
| ENST00000323322.9:c.456+31G>C (GH1) | ENSP00000312673.5:n.456+31G>C | |
| ENST00000342364.8:c.172-223G>C (GH1) | ENSP00000339278.4:n.172-223G>C | |
| ENST00000351388.8:c.336+31G>C (GH1) | ENSP00000343791.4:n.336+31G>C | |
| ENST00000392824.8:c.10+1038G>C (CSHL1) | ENSP00000376569.5:n.10+1038G>C | |
| ENST00000458650.6:c.411+31G>C (GH1) | ENSP00000408486.2:n.411+31G>C | |
| ENST00000579711.1:n.817+31G>C (GH1) | ||
| ENST00000617086.1:c.11-223G>C (GH1) | ENSP00000481276.1:n.11-223G>C | |
| NM_000515.4:c.456+31G>C (GH1) | NP_000506.2:n.456+31G>C | |
| NM_022559.3:c.411+31G>C (GH1) | NP_072053.1:n.411+31G>C | |
| NM_022560.3:c.336+31G>C (GH1) | NP_072054.1:n.336+31G>C | |
| XM_011524612.1:c.456+31G>C (GH1) | XP_011522914.1:n.456+31G>C | |
| XR_002958148.1:n.389-61C>G | ||
| NM_000515.5:c.456+31G>C (GH1) MANE Select | NP_000506.2:n.456+31G>C | |
| NM_022559.4:c.411+31G>C (GH1) | NP_072053.1:n.411+31G>C | |
| NM_022560.4:c.336+31G>C (GH1) | NP_072054.1:n.336+31G>C |