Linked Data
dbSNP Id:
rs11951515
gnomAD v2:
5-43382858-T-C
gnomAD v3:
5-43382756-T-C
gnomAD v4:
5-43382756-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.43382756T>C , CM000667.2:g.43382756T>C | GRCh38 |
| NC_000005.9:g.43382858T>C , CM000667.1:g.43382858T>C | GRCh37 |
| NC_000005.8:g.43418615T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361115.4:c.192-704A>G MANE Select | ENSP00000354416.4:n.192-704A>G | |
| ENST00000489442.5:c.192-704A>G | ENSP00000426424.1:n.192-704A>G | |
| ENST00000513525.1:c.51-704A>G | ENSP00000422369.1:n.51-704A>G | |
| NM_001301873.1:c.192-704A>G | NP_001288802.1:n.192-704A>G | |
| NM_001301874.1:c.192-704A>G | NP_001288803.1:n.192-704A>G | |
| NM_001301875.1:c.51-704A>G | NP_001288804.1:n.51-704A>G | |
| NM_148672.3:c.192-704A>G MANE Select | NP_683513.1:n.192-704A>G | |
| XR_241706.2:n.250-704A>G | ||
| XR_427660.2:n.250-704A>G | ||
| XR_925633.1:n.250-704A>G | ||
| XR_241706.3:n.250-704A>G | ||
| XR_925633.2:n.250-704A>G | ||
| NM_001301873.2:c.192-704A>G | NP_001288802.1:n.192-704A>G | |
| NM_001301874.2:c.192-704A>G | NP_001288803.1:n.192-704A>G | |
| NM_001301875.2:c.51-704A>G | NP_001288804.1:n.51-704A>G |