Linked Data
ClinVar Variation Id:
799079
ClinVar RCV Id:
RCV001495407
dbSNP Id:
rs755812288
ExAC:
9:6558552 C / G
gnomAD v2:
9-6558552-C-G
gnomAD v4:
9-6558552-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558552C>G , CM000671.2:g.6558552C>G | GRCh38 |
| NC_000009.11:g.6558552C>G , CM000671.1:g.6558552C>G | GRCh37 |
| NC_000009.10:g.6548552C>G | NCBI36 |
| NG_016397.1:g.92141G>C , LRG_643:g.92141G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2052+7G>C MANE Select | ENSP00000370737.4:n.2052+7G>C | |
| ENST00000460457.2:n.212+7G>C | ||
| ENST00000638233.1:n.487+7G>C | ||
| ENST00000638661.1:c.252+7G>C | ENSP00000491369.1:n.252+7G>C | |
| ENST00000638694.1:n.239+7G>C | ||
| ENST00000639318.1:c.252+7G>C | ENSP00000491932.1:n.252+7G>C | |
| ENST00000639364.1:n.1752+7G>C | ||
| ENST00000639443.1:n.1620+7G>C | ||
| ENST00000639954.1:n.1760+7G>C | ||
| ENST00000640208.1:c.259G>C | ENSP00000491895.1:p.Val87Leu | |
| ENST00000640505.1:n.291+7G>C | ||
| ENST00000640592.1:n.1942G>C | ||
| ENST00000321612.6:c.2052+7G>C | ENSP00000370737.3:n.2052+7G>C | |
| ENST00000460457.1:n.198G>C | ||
| NM_000170.2:c.2052+7G>C , LRG_643t1:c.2052+7G>C | NP_000161.2:n.2052+7G>C | |
| NM_000170.3:c.2052+7G>C MANE Select | NP_000161.2:n.2052+7G>C |