Linked Data
dbSNP Id:
rs1417006531
gnomAD v2:
4-4864497-C-A
gnomAD v3:
4-4862770-C-A
gnomAD v4:
4-4862770-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862770C>A , CM000666.2:g.4862770C>A | GRCh38 |
| NC_000004.11:g.4864497C>A , CM000666.1:g.4864497C>A | GRCh37 |
| NC_000004.10:g.4915398C>A | NCBI36 |
| NG_008121.1:g.8106C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.539C>A MANE Select | ENSP00000372170.4:p.Thr180Asn | |
| ENST00000382723.4:c.539C>A | ENSP00000372170.4:p.Thr180Asn | |
| ENST00000468421.1:n.251C>A | ||
| NM_002448.3:c.539C>A MANE Select | NP_002439.2:p.Thr180Asn |