Linked Data
dbSNP Id:
rs1228155319
gnomAD v2:
17-43037876-T-G
gnomAD v3:
17-44960508-T-G
gnomAD v4:
17-44960508-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44960508T>G , CM000679.2:g.44960508T>G | GRCh38 |
| NC_000017.10:g.43037876T>G , CM000679.1:g.43037876T>G | GRCh37 |
| NC_000017.9:g.40393402T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253407.4:c.598-141A>C (C1QL1) MANE Select | ENSP00000253407.2:n.598-141A>C | |
| ENST00000678938.1:c.-110+2446T>G (NMT1) | ENSP00000503621.1:n.-110+2446T>G | |
| ENST00000253407.3:c.598-141A>C (C1QL1) | ENSP00000253407.2:n.598-141A>C | |
| NM_006688.4:c.598-141A>C (C1QL1) | NP_006679.1:n.598-141A>C | |
| NM_006688.5:c.598-141A>C (C1QL1) MANE Select | NP_006679.1:n.598-141A>C |