Linked Data
dbSNP Id:
rs2143255583
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124071G>C , CM000679.2:g.72124071G>C | GRCh38 |
| NC_000017.10:g.70120212G>C , CM000679.1:g.70120212G>C | GRCh37 |
| NC_000017.9:g.67631807G>C | NCBI36 |
| NG_012490.1:g.8052G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1214G>C MANE Select | ENSP00000245479.2:p.Ser405Thr | |
| ENST00000245479.2:c.1214G>C | ENSP00000245479.2:p.Ser405Thr | |
| NM_000346.3:c.1214G>C | NP_000337.1:p.Ser405Thr | |
| NM_000346.4:c.1214G>C MANE Select | NP_000337.1:p.Ser405Thr |