Linked Data
ClinVar Variation Id:
252942
ClinVar RCV Id:
RCV000508612
dbSNP Id:
rs1554995860
PubMed:
PMID:28194776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57606471C>G , CM000673.2:g.57606471C>G | GRCh38 |
| NC_000011.9:g.57373944C>G , CM000673.1:g.57373944C>G | GRCh37 |
| NC_000011.8:g.57130520C>G | NCBI36 |
| NG_009625.1:g.13918C>G , LRG_105:g.13918C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278407.9:c.953C>G MANE Select | ENSP00000278407.4:p.Ser318Ter | |
| ENST00000528996.2:c.59-5255C>G | ENSP00000431226.2:n.59-5255C>G | |
| ENST00000531605.2:c.*729C>G | ENSP00000503752.1:n.*729C>G | |
| ENST00000619430.2:c.749C>G | ENSP00000478572.2:p.Ser250Ter | |
| ENST00000676670.1:c.953C>G | ENSP00000504807.1:p.Ser318Ter | |
| ENST00000676741.1:n.2035C>G | ||
| ENST00000677624.1:c.*373C>G | ENSP00000503979.1:n.*373C>G | |
| ENST00000677625.1:c.953C>G | ENSP00000502857.1:p.Ser318Ter | |
| ENST00000677856.1:n.1206C>G | ||
| ENST00000677915.1:c.685+4302C>G | ENSP00000503118.1:n.685+4302C>G | |
| ENST00000678533.1:c.*507C>G | ENSP00000503873.1:n.*507C>G | |
| ENST00000678592.1:c.953C>G | ENSP00000504424.1:p.Ser318Ter | |
| ENST00000278407.8:c.953C>G | ENSP00000278407.4:p.Ser318Ter | |
| ENST00000340687.10:c.953C>G | ENSP00000341861.6:p.Ser318Ter | |
| ENST00000378323.8:c.968C>G | ENSP00000367574.4:p.Ser323Ter | |
| ENST00000378324.6:c.797C>G | ENSP00000367575.2:p.Ser266Ter | |
| ENST00000403558.1:c.1082C>G | ENSP00000384420.1:p.Ser361Ter | |
| ENST00000528996.1:c.65C>G | ENSP00000431226.1:p.Ser22Ter | |
| ENST00000531133.5:c.454C>G | ENSP00000435431.1:n.454C>G | |
| ENST00000531797.5:c.*54+4302C>G | ENSP00000432554.1:n.*54+4302C>G | |
| ENST00000619430.1:c.349-5434C>G | ENSP00000478572.1:n.349-5434C>G | |
| NM_000062.2:c.953C>G , LRG_105t1:c.953C>G | NP_000053.2:p.Ser318Ter | |
| NM_001032295.1:c.953C>G | NP_001027466.1:p.Ser318Ter | |
| NM_000062.3:c.953C>G MANE Select | NP_000053.2:p.Ser318Ter | |
| NM_001032295.2:c.953C>G | NP_001027466.1:p.Ser318Ter |