Linked Data
ClinVar Variation Id:
495227
ClinVar RCV Id:
RCV000590978
dbSNP Id:
rs1555223259
PubMed:
PMID:29555671
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114355868G>C , CM000674.2:g.114355868G>C | GRCh38 |
| NC_000012.11:g.114793673G>C , CM000674.1:g.114793673G>C | GRCh37 |
| NC_000012.10:g.113278056G>C | NCBI36 |
| NG_007373.1:g.57575C>G , LRG_670:g.57575C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.1221C>G MANE Select | ENSP00000384152.3:p.Tyr407Ter | |
| ENST00000310346.8:c.1221C>G | ENSP00000309913.4:p.Tyr407Ter | |
| ENST00000349716.9:c.1071C>G | ENSP00000337723.5:p.Tyr357Ter | |
| ENST00000405440.6:c.1221C>G | ENSP00000384152.2:p.Tyr407Ter | |
| NM_000192.3:c.1221C>G , LRG_670t1:c.1221C>G | NP_000183.2:p.Tyr407Ter | |
| NM_080717.2:c.1071C>G | NP_542448.1:p.Tyr357Ter | |
| NM_181486.2:c.1221C>G | NP_852259.1:p.Tyr407Ter | |
| XM_017019912.1:c.1269C>G | XP_016875401.1:p.Tyr423Ter | |
| NM_080717.3:c.1071C>G | NP_542448.1:p.Tyr357Ter | |
| NM_181486.4:c.1221C>G MANE Select | NP_852259.1:p.Tyr407Ter | |
| NM_080717.4:c.1071C>G | NP_542448.1:p.Tyr357Ter |