Linked Data
ClinVar Variation Id:
7686
ClinVar RCV Id:
RCV000008125
dbSNP Id:
rs182549
gnomAD v2:
2-136616754-C-T
gnomAD v3:
2-135859184-C-T
gnomAD v4:
2-135859184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859184C>T , CM000664.2:g.135859184C>T | GRCh38 |
| NC_000002.11:g.136616754C>T , CM000664.1:g.136616754C>T | GRCh37 |
| NC_000002.10:g.136333224C>T | NCBI36 |
| NG_008104.2:g.986G>A , LRG_338:g.986G>A | |
| NG_008958.1:g.22258G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1362+117G>A MANE Select | ENSP00000264156.2:n.1362+117G>A | |
| ENST00000264156.2:c.1362+117G>A | ENSP00000264156.2:n.1362+117G>A | |
| ENST00000492091.1:n.181+3423G>A | ||
| NM_005915.5:c.1362+117G>A | NP_005906.2:n.1362+117G>A | |
| NM_005915.6:c.1362+117G>A MANE Select | NP_005906.2:n.1362+117G>A |