Linked Data
ClinVar Variation Id:
3011
ClinVar RCV Id:
RCV000003147
dbSNP Id:
rs104894114
gnomAD v4:
9-2718655-G-T
PubMed:
PMID:16909397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2718655G>T , CM000671.2:g.2718655G>T | GRCh38 |
| NC_000009.11:g.2718655G>T , CM000671.1:g.2718655G>T | GRCh37 |
| NC_000009.10:g.2708655G>T | NCBI36 |
| NG_012181.1:g.6130G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382082.4:c.916G>T MANE Select | ENSP00000371514.3:p.Glu306Ter | |
| ENST00000382082.3:c.916G>T | ENSP00000371514.3:p.Glu306Ter | |
| NM_133497.3:c.916G>T | NP_598004.1:p.Glu306Ter | |
| XR_929202.1:n.1417G>T | ||
| XR_929203.1:n.1417G>T | ||
| NM_133497.4:c.916G>T MANE Select | NP_598004.1:p.Glu306Ter |