Linked Data
dbSNP Id:
rs1803384100
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41262222C>G , CM000670.2:g.41262222C>G | GRCh38 |
| NC_000008.10:g.41119741C>G , CM000670.1:g.41119741C>G | GRCh37 |
| NC_000008.9:g.41238898C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220772.8:c.*2945G>C MANE Select | ENSP00000220772.3:n.*2945G>C | |
| ENST00000220772.7:c.*2945G>C | ENSP00000220772.3:n.*2945G>C | |
| ENST00000379845.3:c.*2945G>C | ENSP00000369174.3:n.*2945G>C | |
| NM_003012.4:c.*2945G>C | NP_003003.3:n.*2945G>C | |
| NM_003012.5:c.*2945G>C MANE Select | NP_003003.3:n.*2945G>C |