Linked Data
dbSNP Id:
rs1243866322
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128954184G>C , CM000669.2:g.128954184G>C | GRCh38 |
| NC_000007.13:g.128594238G>C , CM000669.1:g.128594238G>C | GRCh37 |
| NC_000007.12:g.128381474G>C | NCBI36 |
| NG_023428.1:g.105990C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265388.9:c.*1233C>G | ENSP00000265388.5:n.*1233C>G | |
| ENST00000627585.2:c.*1233C>G | ENSP00000487231.1:n.*1233C>G | |
| NM_001191028.2:c.*1233C>G | NP_001177957.2:n.*1233C>G | |
| NM_012470.3:c.*1233C>G | NP_036602.1:n.*1233C>G | |
| NR_034053.2:n.4569C>G |