Linked Data
ClinVar Variation Id:
56086
ClinVar RCV Id:
RCV000049495
dbSNP Id:
rs386833567
gnomAD v4:
9-6540060-G-A
PubMed:
PMID:15670722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6540060G>A , CM000671.2:g.6540060G>A | GRCh38 |
| NC_000009.11:g.6540060G>A , CM000671.1:g.6540060G>A | GRCh37 |
| NC_000009.10:g.6530060G>A | NCBI36 |
| NG_016397.1:g.110633C>T , LRG_643:g.110633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2656C>T MANE Select | ENSP00000370737.4:p.Gln886Ter | |
| ENST00000638233.1:n.1091C>T | ||
| ENST00000638661.1:c.856C>T | ENSP00000491369.1:p.Gln286Ter | |
| ENST00000638694.1:n.843C>T | ||
| ENST00000639318.1:c.770-3824C>T | ENSP00000491932.1:n.770-3824C>T | |
| ENST00000639364.1:n.2356C>T | ||
| ENST00000639443.1:n.2224C>T | ||
| ENST00000639461.1:n.1757C>T | ||
| ENST00000639639.1:c.358C>T | ENSP00000491312.1:p.Gln120Ter | |
| ENST00000639954.1:n.2364C>T | ||
| ENST00000640505.1:n.895C>T | ||
| ENST00000321612.6:c.2656C>T | ENSP00000370737.3:p.Gln886Ter | |
| ENST00000477960.1:n.120C>T | ||
| NM_000170.2:c.2656C>T , LRG_643t1:c.2656C>T | NP_000161.2:p.Gln886Ter | |
| NM_000170.3:c.2656C>T MANE Select | NP_000161.2:p.Gln886Ter |