Linked Data
ClinVar Variation Id:
1673779
ClinVar RCV Id:
RCV002204202
dbSNP Id:
rs1243954142
gnomAD v2:
9-6595133-A-G
gnomAD v4:
9-6595133-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595133A>G , CM000671.2:g.6595133A>G | GRCh38 |
| NC_000009.11:g.6595133A>G , CM000671.1:g.6595133A>G | GRCh37 |
| NC_000009.10:g.6585133A>G | NCBI36 |
| NG_016397.1:g.55560T>C , LRG_643:g.55560T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1156-14T>C MANE Select | ENSP00000370737.4:n.1156-14T>C | |
| ENST00000638654.1:c.403-14T>C | ENSP00000491101.1:n.403-14T>C | |
| ENST00000639364.1:n.856-14T>C | ||
| ENST00000639443.1:n.724-14T>C | ||
| ENST00000639493.1:n.308-14T>C | ||
| ENST00000639954.1:n.864-14T>C | ||
| ENST00000640592.1:n.1039-14T>C | ||
| ENST00000321612.6:c.1156-14T>C | ENSP00000370737.3:n.1156-14T>C | |
| ENST00000463305.1:n.240-14T>C | ||
| NM_000170.2:c.1156-14T>C , LRG_643t1:c.1156-14T>C | NP_000161.2:n.1156-14T>C | |
| NM_000170.3:c.1156-14T>C MANE Select | NP_000161.2:n.1156-14T>C |