Linked Data
dbSNP Id:
rs1735983527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191694C>G , CM000666.2:g.186191694C>G | GRCh38 |
| NC_000004.11:g.187112848C>G , CM000666.1:g.187112848C>G | GRCh37 |
| NC_000004.10:g.187349842C>G | NCBI36 |
| NG_007965.1:g.5175C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-130C>G MANE Select | ENSP00000368079.4:n.-130C>G | |
| ENST00000378802.4:c.-130C>G | ENSP00000368079.4:n.-130C>G | |
| NM_207352.3:c.-130C>G | NP_997235.3:n.-130C>G | |
| XM_005262935.2:c.-130C>G | XP_005262992.1:n.-130C>G | |
| XM_017008037.1:c.-440C>G | XP_016863526.1:n.-440C>G | |
| NM_207352.4:c.-130C>G MANE Select | NP_997235.3:n.-130C>G |