Linked Data
dbSNP Id:
rs1359494738
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582524G>C , CM000673.2:g.47582524G>C | GRCh38 |
| NC_000011.9:g.47604076G>C , CM000673.1:g.47604076G>C | GRCh37 |
| NC_000011.8:g.47560652G>C | NCBI36 |
| NG_011946.1:g.8515G>C | |
| NG_011946.2:g.8515G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.627+56G>C MANE Select | ENSP00000263774.4:n.627+56G>C | |
| ENST00000531351.2:n.1822+56G>C | ||
| ENST00000677462.1:n.3101+56G>C | ||
| ENST00000678975.1:n.2884+56G>C | ||
| ENST00000263774.8:c.627+56G>C | ENSP00000263774.4:n.627+56G>C | |
| ENST00000525212.1:n.282+56G>C | ||
| ENST00000525378.5:n.565+56G>C | ||
| ENST00000527178.1:n.227+56G>C | ||
| ENST00000533507.5:n.1521+56G>C | ||
| NM_004551.2:c.627+56G>C | NP_004542.1:n.627+56G>C | |
| NM_004551.3:c.627+56G>C MANE Select | NP_004542.1:n.627+56G>C |