Linked Data
dbSNP Id:
rs1212970850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425488T>G , CM000664.2:g.84425488T>G | GRCh38 |
| NC_000002.11:g.84652612T>G , CM000664.1:g.84652612T>G | GRCh37 |
| NC_000002.10:g.84506123T>G | NCBI36 |
| NG_016755.1:g.38975A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.941A>C MANE Select | ENSP00000377446.2:p.Lys314Thr | |
| ENST00000651342.1:c.*381A>C | ENSP00000498471.1:n.*381A>C | |
| ENST00000393868.6:c.941A>C | ENSP00000377446.2:p.Lys314Thr | |
| ENST00000484365.1:n.1449A>C | ||
| ENST00000487809.1:n.688A>C | ||
| ENST00000491123.5:n.787A>C | ||
| NM_003849.3:c.941A>C | NP_003840.2:p.Lys314Thr | |
| NM_003849.4:c.941A>C MANE Select | NP_003840.2:p.Lys314Thr |