Linked Data
ClinVar Variation Id:
7687
ClinVar RCV Id:
RCV000008126
dbSNP Id:
rs145946881
gnomAD v2:
2-136608746-C-G
gnomAD v3:
2-135851176-C-G
gnomAD v4:
2-135851176-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851176C>G , CM000664.2:g.135851176C>G | GRCh38 |
| NC_000002.11:g.136608746C>G , CM000664.1:g.136608746C>G | GRCh37 |
| NC_000002.10:g.136325216C>G | NCBI36 |
| NG_008104.2:g.8994G>C , LRG_338:g.8994G>C | |
| NG_008958.1:g.30266G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1917+226G>C MANE Select | ENSP00000264156.2:n.1917+226G>C | |
| ENST00000264156.2:c.1917+226G>C | ENSP00000264156.2:n.1917+226G>C | |
| ENST00000483902.1:n.544+226G>C | ||
| ENST00000492091.1:n.343+226G>C | ||
| NM_005915.5:c.1917+226G>C | NP_005906.2:n.1917+226G>C | |
| NM_005915.6:c.1917+226G>C MANE Select | NP_005906.2:n.1917+226G>C |