Linked Data
dbSNP Id:
rs1431005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.187424214G>C , CM000666.2:g.187424214G>C | GRCh38 |
| NC_000004.11:g.188345368G>C , CM000666.1:g.188345368G>C | GRCh37 |
| NC_000004.10:g.188582362G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_038931.1:n.322+81078C>G | ||
| XR_939603.1:n.268+1217G>C | ||
| XR_001741954.1:n.258+10503G>C | ||
| XR_001741955.1:n.1517+1217G>C | ||
| XR_001741956.1:n.258+10503G>C | ||
| XR_939603.2:n.269+1217G>C |