Linked Data
ClinVar Variation Id:
56107
ClinVar RCV Id:
RCV000049516
dbSNP Id:
rs386833590
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6605130C>A , CM000671.2:g.6605130C>A | GRCh38 |
| NC_000009.11:g.6605130C>A , CM000671.1:g.6605130C>A | GRCh37 |
| NC_000009.10:g.6595130C>A | NCBI36 |
| NG_016397.1:g.45563G>T , LRG_643:g.45563G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.861+1G>T MANE Select | ENSP00000370737.4:n.861+1G>T | |
| ENST00000638654.1:c.108+1G>T | ENSP00000491101.1:n.108+1G>T | |
| ENST00000639364.1:n.561+1G>T | ||
| ENST00000639443.1:n.429+1G>T | ||
| ENST00000639954.1:n.569+1G>T | ||
| ENST00000640592.1:n.744+1G>T | ||
| ENST00000321612.6:c.861+1G>T | ENSP00000370737.3:n.861+1G>T | |
| ENST00000463305.1:n.142+1G>T | ||
| NM_000170.2:c.861+1G>T , LRG_643t1:c.861+1G>T | NP_000161.2:n.861+1G>T | |
| NM_000170.3:c.861+1G>T MANE Select | NP_000161.2:n.861+1G>T |