Linked Data
dbSNP Id:
rs1785018741
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32404810T>C , CM000669.2:g.32404810T>C | GRCh38 |
| NC_000007.13:g.32444422T>C , CM000669.1:g.32444422T>C | GRCh37 |
| NC_000007.12:g.32410947T>C | NCBI36 |
| NG_051183.1:g.28415A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672256.1:c.310+23012A>G | ENSP00000499831.1:n.310+23012A>G | |
| NM_001322059.1:c.310+23012A>G | NP_001308988.1:n.310+23012A>G | |
| NM_001322059.2:c.310+23012A>G | NP_001308988.1:n.310+23012A>G |