Linked Data
dbSNP Id:
rs146095913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456777G>A , CM000683.2:g.44456777G>A | GRCh38 |
| NC_000021.8:g.45876660G>A , CM000683.1:g.45876660G>A | GRCh37 |
| NC_000021.7:g.44701088G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.133G>A MANE Select | ENSP00000291592.4:p.Ala45Thr | |
| ENST00000291592.5:c.133G>A | ENSP00000291592.4:p.Ala45Thr | |
| NM_030891.4:c.133G>A | NP_112153.1:p.Ala45Thr | |
| NM_030891.5:c.133G>A | NP_112153.1:p.Ala45Thr | |
| NM_030891.6:c.133G>A MANE Select | NP_112153.1:p.Ala45Thr |