Linked Data
dbSNP Id:
rs1389599973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256962G>C , CM000666.2:g.3256962G>C | GRCh38 |
| NC_000004.11:g.3258689G>C , CM000666.1:g.3258689G>C | GRCh37 |
| NC_000004.10:g.3228487G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505599.5:c.729+1105G>C | ENSP00000425405.1:n.729+1105G>C | |
| ENST00000510580.1:c.765+1069G>C | ENSP00000420966.1:n.765+1069G>C | |
| XM_011513464.1:c.729+1105G>C | XP_011511766.1:n.729+1105G>C | |
| XR_924950.1:n.753+1105G>C |