Linked Data
dbSNP Id:
rs1785018171
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32404781G>A , CM000669.2:g.32404781G>A | GRCh38 |
| NC_000007.13:g.32444393G>A , CM000669.1:g.32444393G>A | GRCh37 |
| NC_000007.12:g.32410918G>A | NCBI36 |
| NG_051183.1:g.28444C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672256.1:c.310+23041C>T | ENSP00000499831.1:n.310+23041C>T | |
| NM_001322059.1:c.310+23041C>T | NP_001308988.1:n.310+23041C>T | |
| NM_001322059.2:c.310+23041C>T | NP_001308988.1:n.310+23041C>T |