Linked Data
dbSNP Id:
rs553754857
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233008C>G , CM000667.2:g.55233008C>G | GRCh38 |
| NC_000005.9:g.54528836C>G , CM000667.1:g.54528836C>G | GRCh37 |
| NC_000005.8:g.54564593C>G | NCBI36 |
| NG_034201.1:g.5710G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+135G>C MANE Select | ENSP00000282572.4:n.381+135G>C | |
| ENST00000282572.4:c.381+135G>C | ENSP00000282572.4:n.381+135G>C | |
| ENST00000501463.2:c.*120G>C | ENSP00000422485.1:n.*120G>C | |
| NM_021147.4:c.381+135G>C | NP_066970.3:n.381+135G>C | |
| NR_125346.1:n.710G>C | ||
| NR_125347.1:n.580+130G>C | ||
| NM_021147.5:c.381+135G>C MANE Select | NP_066970.3:n.381+135G>C | |
| NR_125346.2:n.601G>C | ||
| NR_125347.2:n.471+130G>C |