Linked Data
dbSNP Id:
rs1398276703
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141733492G>A , CM000666.2:g.141733492G>A | GRCh38 |
| NC_000004.11:g.142654645G>A , CM000666.1:g.142654645G>A | GRCh37 |
| NC_000004.10:g.142874095G>A | NCBI36 |
| NG_029605.1:g.101897G>A | |
| NG_029605.2:g.101897G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320650.9:c.*644G>A MANE Select | ENSP00000323505.4:n.*644G>A | |
| ENST00000296545.11:c.*644G>A | ENSP00000296545.7:n.*644G>A | |
| ENST00000394159.2:c.1052G>A | ENSP00000377714.1:n.1052G>A | |
| NM_000585.4:c.*644G>A | NP_000576.1:n.*644G>A | |
| NM_172175.2:c.*644G>A | NP_751915.1:n.*644G>A | |
| NR_037840.2:n.1983G>A | ||
| NM_000585.5:c.*644G>A MANE Select | NP_000576.1:n.*644G>A | |
| NM_172175.3:c.*644G>A | NP_751915.1:n.*644G>A | |
| NR_037840.3:n.1996G>A |