Linked Data
dbSNP Id:
rs2122154087
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47881844T>C , CM000681.2:g.47881844T>C | GRCh38 |
| NC_000019.9:g.48385101T>C , CM000681.1:g.48385101T>C | GRCh37 |
| NC_000019.8:g.53076913T>C | NCBI36 |
| NG_016745.1:g.9554A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222002.4:c.472+240A>G MANE Select | ENSP00000222002.2:n.472+240A>G | |
| ENST00000222002.3:c.472+240A>G | ENSP00000222002.2:n.472+240A>G | |
| NM_003167.3:c.472+240A>G | NP_003158.2:n.472+240A>G | |
| NM_003167.4:c.472+240A>G MANE Select | NP_003158.2:n.472+240A>G |