Linked Data
dbSNP Id:
rs1785018686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32404808C>T , CM000669.2:g.32404808C>T | GRCh38 |
| NC_000007.13:g.32444420C>T , CM000669.1:g.32444420C>T | GRCh37 |
| NC_000007.12:g.32410945C>T | NCBI36 |
| NG_051183.1:g.28417G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672256.1:c.310+23014G>A | ENSP00000499831.1:n.310+23014G>A | |
| NM_001322059.1:c.310+23014G>A | NP_001308988.1:n.310+23014G>A | |
| NM_001322059.2:c.310+23014G>A | NP_001308988.1:n.310+23014G>A |