Linked Data
ClinVar Variation Id:
56044
ClinVar RCV Id:
RCV000049453
dbSNP Id:
rs386833525
gnomAD v4:
9-6592224-C-G
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6592224C>G , CM000671.2:g.6592224C>G | GRCh38 |
| NC_000009.11:g.6592224C>G , CM000671.1:g.6592224C>G | GRCh37 |
| NC_000009.10:g.6582224C>G | NCBI36 |
| NG_016397.1:g.58469G>C , LRG_643:g.58469G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1402-1G>C MANE Select | ENSP00000370737.4:n.1402-1G>C | |
| ENST00000639364.1:n.1102-1G>C | ||
| ENST00000639443.1:n.970-1G>C | ||
| ENST00000639954.1:n.1110-1G>C | ||
| ENST00000640592.1:n.1285-1G>C | ||
| ENST00000640703.1:n.245-1G>C | ||
| ENST00000321612.6:c.1402-1G>C | ENSP00000370737.3:n.1402-1G>C | |
| ENST00000463305.1:n.486-1G>C | ||
| NM_000170.2:c.1402-1G>C , LRG_643t1:c.1402-1G>C | NP_000161.2:n.1402-1G>C | |
| NM_000170.3:c.1402-1G>C MANE Select | NP_000161.2:n.1402-1G>C |