Linked Data
dbSNP Id:
rs891300273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519867T>C , CM000674.2:g.52519867T>C | GRCh38 |
| NC_000012.11:g.52913651T>C , CM000674.1:g.52913651T>C | GRCh37 |
| NC_000012.10:g.51199918T>C | NCBI36 |
| NG_008297.1:g.5593A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.430A>G MANE Select | ENSP00000252242.4:p.Thr144Ala | |
| ENST00000252242.8:c.430A>G | ENSP00000252242.4:p.Thr144Ala | |
| ENST00000549420.1:c.100A>G | ENSP00000447209.1:p.Thr34Ala | |
| ENST00000551275.1:c.325A>G | ENSP00000448041.1:p.Thr109Ala | |
| ENST00000552629.5:n.528A>G | ||
| NM_000424.3:c.430A>G | NP_000415.2:p.Thr144Ala | |
| NM_000424.4:c.430A>G MANE Select | NP_000415.2:p.Thr144Ala |