Linked Data
ClinVar Variation Id:
17656
ClinVar RCV Id:
RCV002279929
dbSNP Id:
rs121912772
PubMed:
PMID:10577906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104041526A>C , CM000672.2:g.104041526A>C | GRCh38 |
| NC_000010.10:g.105801284A>C , CM000672.1:g.105801284A>C | GRCh37 |
| NC_000010.9:g.105791274A>C | NCBI36 |
| NG_007069.1:g.49355T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369733.8:c.2564T>G | ENSP00000358748.3:p.Leu855Ter | |
| ENST00000648076.2:c.2564T>G MANE Select | ENSP00000497653.1:p.Leu855Ter | |
| ENST00000353479.9:c.2564T>G | ENSP00000340937.5:p.Leu855Ter | |
| ENST00000369733.7:c.2564T>G | ENSP00000358748.3:p.Leu855Ter | |
| NM_000494.3:c.2564T>G | NP_000485.3:p.Leu855Ter | |
| NM_000494.4:c.2564T>G MANE Select | NP_000485.3:p.Leu855Ter |