Linked Data
ClinVar Variation Id:
56089
ClinVar RCV Id:
RCV000049498
dbSNP Id:
rs386833570
gnomAD v4:
9-6534781-G-A
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6534781G>A , CM000671.2:g.6534781G>A | GRCh38 |
| NC_000009.11:g.6534781G>A , CM000671.1:g.6534781G>A | GRCh37 |
| NC_000009.10:g.6524781G>A | NCBI36 |
| NG_016397.1:g.115912C>T , LRG_643:g.115912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2846C>T MANE Select | ENSP00000370737.4:p.Pro949Leu | |
| ENST00000638233.1:n.1281C>T | ||
| ENST00000638661.1:c.1046C>T | ENSP00000491369.1:p.Pro349Leu | |
| ENST00000638694.1:n.1033C>T | ||
| ENST00000639318.1:c.950C>T | ENSP00000491932.1:p.Pro317Leu | |
| ENST00000639364.1:n.2546C>T | ||
| ENST00000639443.1:n.2414C>T | ||
| ENST00000639461.1:n.1947C>T | ||
| ENST00000639639.1:c.548C>T | ENSP00000491312.1:p.Pro183Leu | |
| ENST00000639954.1:n.2554C>T | ||
| ENST00000640505.1:n.1085C>T | ||
| ENST00000321612.6:c.2846C>T | ENSP00000370737.3:p.Pro949Leu | |
| ENST00000477960.1:n.427C>T | ||
| NM_000170.2:c.2846C>T , LRG_643t1:c.2846C>T | NP_000161.2:p.Pro949Leu | |
| NM_000170.3:c.2846C>T MANE Select | NP_000161.2:p.Pro949Leu |