Linked Data
ClinVar Variation Id:
56084
ClinVar RCV Id:
RCV000049493
dbSNP Id:
rs386833565
ExAC:
9:6540109 G / T
gnomAD v2:
9-6540109-G-T
gnomAD v3:
9-6540109-G-T
gnomAD v4:
9-6540109-G-T
PubMed:
PMID:15851735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6540109G>T , CM000671.2:g.6540109G>T | GRCh38 |
| NC_000009.11:g.6540109G>T , CM000671.1:g.6540109G>T | GRCh37 |
| NC_000009.10:g.6530109G>T | NCBI36 |
| NG_016397.1:g.110584C>A , LRG_643:g.110584C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2607C>A MANE Select | ENSP00000370737.4:p.Pro869= | |
| ENST00000638233.1:n.1042C>A | ||
| ENST00000638661.1:c.807C>A | ENSP00000491369.1:p.Pro269= | |
| ENST00000638694.1:n.794C>A | ||
| ENST00000639318.1:c.770-3873C>A | ENSP00000491932.1:n.770-3873C>A | |
| ENST00000639364.1:n.2307C>A | ||
| ENST00000639443.1:n.2175C>A | ||
| ENST00000639461.1:n.1708C>A | ||
| ENST00000639639.1:c.309C>A | ENSP00000491312.1:p.Pro103= | |
| ENST00000639954.1:n.2315C>A | ||
| ENST00000640505.1:n.846C>A | ||
| ENST00000321612.6:c.2607C>A | ENSP00000370737.3:p.Pro869= | |
| ENST00000477960.1:n.71C>A | ||
| NM_000170.2:c.2607C>A , LRG_643t1:c.2607C>A | NP_000161.2:p.Pro869= | |
| NM_000170.3:c.2607C>A MANE Select | NP_000161.2:p.Pro869= |