Linked Data
dbSNP Id:
rs3754686
gnomAD v2:
2-136603276-T-C
gnomAD v3:
2-135845706-T-C
gnomAD v4:
2-135845706-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135845706T>C , CM000664.2:g.135845706T>C | GRCh38 |
| NC_000002.11:g.136603276T>C , CM000664.1:g.136603276T>C | GRCh37 |
| NC_000002.10:g.136319746T>C | NCBI36 |
| NG_008104.2:g.14464A>G , LRG_338:g.14464A>G | |
| NG_008958.1:g.35736A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.2209+531A>G MANE Select | ENSP00000264156.2:n.2209+531A>G | |
| ENST00000264156.2:c.2209+531A>G | ENSP00000264156.2:n.2209+531A>G | |
| ENST00000492091.1:n.635+531A>G | ||
| NM_005915.5:c.2209+531A>G | NP_005906.2:n.2209+531A>G | |
| NM_005915.6:c.2209+531A>G MANE Select | NP_005906.2:n.2209+531A>G |