Linked Data
ClinVar Variation Id:
410885
ClinVar RCV Id:
RCV000470261
dbSNP Id:
rs1060503067
COSMIC:
COSM5944164
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459756G>T , CM000675.2:g.48459756G>T | GRCh38 |
| NC_000013.10:g.49033892G>T , CM000675.1:g.49033892G>T | GRCh37 |
| NC_000013.9:g.47931893G>T | NCBI36 |
| NG_009009.1:g.161010G>T , LRG_517:g.161010G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2029G>T MANE Select | ENSP00000267163.4:p.Glu677Ter | |
| ENST00000643064.1:c.194+78313G>T | ||
| ENST00000650461.1:c.2029G>T | ENSP00000497193.1:p.Glu677Ter | |
| ENST00000267163.4:c.2029G>T | ENSP00000267163.4:p.Glu677Ter | |
| NM_000321.2:c.2029G>T , LRG_517t1:c.2029G>T | NP_000312.2:p.Glu677Ter | |
| XM_011535171.1:c.1768G>T | XP_011533473.1:p.Glu590Ter | |
| XM_011535171.2:c.1768G>T | XP_011533473.1:p.Glu590Ter | |
| NM_000321.3:c.2029G>T MANE Select | NP_000312.2:p.Glu677Ter |