Linked Data
dbSNP Id:
rs768060353
ExAC:
4:4864914 C / A
gnomAD v2:
4-4864914-C-A
gnomAD v4:
4-4863187-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863187C>A , CM000666.2:g.4863187C>A | GRCh38 |
| NC_000004.11:g.4864914C>A , CM000666.1:g.4864914C>A | GRCh37 |
| NC_000004.10:g.4915815C>A | NCBI36 |
| NG_008121.1:g.8523C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.*44C>A MANE Select | ENSP00000372170.4:n.*44C>A | |
| ENST00000382723.4:c.*44C>A | ENSP00000372170.4:n.*44C>A | |
| NM_002448.3:c.*44C>A MANE Select | NP_002439.2:n.*44C>A |