Linked Data
dbSNP Id:
rs1159678735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507070C>A , CM000674.2:g.14507070C>A | GRCh38 |
| NC_000012.11:g.14660004C>A , CM000674.1:g.14660004C>A | GRCh37 |
| NC_000012.10:g.14551271C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1235G>T MANE Select | ENSP00000240617.5:p.Trp412Leu | |
| ENST00000240617.9:c.1235G>T | ENSP00000240617.5:p.Trp412Leu | |
| NM_024829.5:c.1235G>T | NP_079105.4:p.Trp412Leu | |
| NM_024829.6:c.1235G>T MANE Select | NP_079105.4:p.Trp412Leu |