Linked Data
ClinVar Variation Id:
29634
ClinVar RCV Id:
RCV000022477
dbSNP Id:
rs387906604
gnomAD v2:
3-48602891-G-A
PubMed:
PMID:11843659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48565458G>A , CM000665.2:g.48565458G>A | GRCh38 |
| NC_000003.11:g.48602891G>A , CM000665.1:g.48602891G>A | GRCh37 |
| NC_000003.10:g.48577895G>A | NCBI36 |
| NG_007065.1:g.34795C>T , LRG_286:g.34795C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.8479C>T MANE Select | ENSP00000506558.1:p.Gln2827Ter | |
| ENST00000328333.12:c.8479C>T | ENSP00000332371.8:p.Gln2827Ter | |
| ENST00000487017.5:n.5118C>T | ||
| NM_000094.3:c.8479C>T , LRG_286t1:c.8479C>T | NP_000085.1:p.Gln2827Ter | |
| XM_011533336.1:c.8506C>T | XP_011531638.1:p.Gln2836Ter | |
| XM_011533337.1:c.8479C>T | XP_011531639.1:p.Gln2827Ter | |
| XM_011533338.1:c.8446C>T | XP_011531640.1:p.Gln2816Ter | |
| XR_940369.1:n.8542C>T | ||
| XR_940370.1:n.8542C>T | ||
| XR_940371.1:n.8542C>T | ||
| XM_017005688.1:c.8419C>T | XP_016861177.1:p.Gln2807Ter | |
| XR_001740003.1:n.8515C>T | ||
| XR_001740004.1:n.8515C>T | ||
| XR_001740005.1:n.8515C>T | ||
| NM_000094.4:c.8479C>T MANE Select | NP_000085.1:p.Gln2827Ter |