Linked Data
dbSNP Id:
rs1865610872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086736G>C , CM000673.2:g.112086736G>C | GRCh38 |
| NC_000011.9:g.111957460G>C , CM000673.1:g.111957460G>C | GRCh37 |
| NC_000011.8:g.111462670G>C | NCBI36 |
| NG_012337.2:g.4890G>C | |
| NG_033145.1:g.5063C>G | |
| NG_012337.3:g.4890G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504148.3:c.-13C>G MANE Select | ENSP00000422122.2:n.-13C>G | |
| ENST00000504148.2:c.-13C>G | ENSP00000422122.2:n.-13C>G | |
| ENST00000509359.6:c.-13C>G | ENSP00000421964.2:n.-13C>G | |
| ENST00000541231.1:c.33C>G | ENSP00000438455.1:p.Ser11Arg | |
| NM_012459.2:c.33C>G | NP_036591.2:p.Ser11Arg | |
| NR_028383.1:n.63C>G | ||
| NM_012459.3:c.-13C>G | NP_036591.3:n.-13C>G | |
| NR_028383.2:n.21C>G | ||
| NR_160400.1:n.21C>G | ||
| NM_012459.4:c.-13C>G MANE Select | NP_036591.3:n.-13C>G |