Linked Data
dbSNP Id:
rs774987751
gnomAD v2:
17-43038194-A-G
gnomAD v3:
17-44960826-A-G
gnomAD v4:
17-44960826-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44960826A>G , CM000679.2:g.44960826A>G | GRCh38 |
| NC_000017.10:g.43038194A>G , CM000679.1:g.43038194A>G | GRCh37 |
| NC_000017.9:g.40393720A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253407.4:c.598-459T>C (C1QL1) MANE Select | ENSP00000253407.2:n.598-459T>C | |
| ENST00000678938.1:c.-110+2764A>G (NMT1) | ENSP00000503621.1:n.-110+2764A>G | |
| ENST00000253407.3:c.598-459T>C (C1QL1) | ENSP00000253407.2:n.598-459T>C | |
| NM_006688.4:c.598-459T>C (C1QL1) | NP_006679.1:n.598-459T>C | |
| NM_006688.5:c.598-459T>C (C1QL1) MANE Select | NP_006679.1:n.598-459T>C |