Linked Data
dbSNP Id:
rs2302254
gnomAD v2:
17-49230900-C-T
gnomAD v3:
17-51153539-C-T
gnomAD v4:
17-51153539-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.51153539C>T , CM000679.2:g.51153539C>T | GRCh38 |
| NC_000017.10:g.49230900C>T , CM000679.1:g.49230900C>T | GRCh37 |
| NC_000017.9:g.46585899C>T | NCBI36 |
| NG_021169.1:g.4981C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393196.7:c.-128C>T (NME1) | ENSP00000376892.3:n.-128C>T | |
| NM_001018136.2:c.-128C>T (NME1-NME2) | NP_001018146.1:n.-128C>T | |
| NR_037149.1:n.4C>T (NME1-NME2) |