Linked Data
dbSNP Id:
rs532001118
gnomAD v2:
4-3258382-G-C
gnomAD v3:
4-3256655-G-C
gnomAD v4:
4-3256655-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256655G>C , CM000666.2:g.3256655G>C | GRCh38 |
| NC_000004.11:g.3258382G>C , CM000666.1:g.3258382G>C | GRCh37 |
| NC_000004.10:g.3228180G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505599.5:c.729+798G>C | ENSP00000425405.1:n.729+798G>C | |
| ENST00000510580.1:c.765+762G>C | ENSP00000420966.1:n.765+762G>C | |
| XM_011513464.1:c.729+798G>C | XP_011511766.1:n.729+798G>C | |
| XR_924950.1:n.753+798G>C |