Linked Data
ClinVar Variation Id:
402180
ClinVar RCV Id:
RCV000454144
dbSNP Id:
rs1060499758
gnomAD v2:
1-197063209-C-T
gnomAD v4:
1-197094079-C-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197094079C>T , CM000663.2:g.197094079C>T | GRCh38 |
| NC_000001.10:g.197063209C>T , CM000663.1:g.197063209C>T | GRCh37 |
| NC_000001.9:g.195329832C>T | NCBI36 |
| NG_015867.1:g.57616G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2371+5G>A | ||
| ENST00000367409.9:c.9084+5G>A MANE Select | ENSP00000356379.4:n.9084+5G>A | |
| ENST00000680265.1:c.9306+5G>A | ENSP00000505384.1:n.9306+5G>A | |
| ENST00000680710.1:c.9084+5G>A | ENSP00000506676.1:n.9084+5G>A | |
| ENST00000294732.11:c.4329+5G>A | ENSP00000294732.7:n.4329+5G>A | |
| ENST00000367408.5:c.2079+5G>A | ENSP00000356378.1:n.2079+5G>A | |
| ENST00000367409.8:c.9084+5G>A | ENSP00000356379.4:n.9084+5G>A | |
| ENST00000612785.1:c.3042+5G>A | ENSP00000479244.1:n.3042+5G>A | |
| NM_001206846.1:c.4329+5G>A | NP_001193775.1:n.4329+5G>A | |
| NM_018136.4:c.9084+5G>A | NP_060606.3:n.9084+5G>A | |
| NM_018136.5:c.9084+5G>A MANE Select | NP_060606.3:n.9084+5G>A | |
| NM_001206846.2:c.4329+5G>A | NP_001193775.1:n.4329+5G>A |