Linked Data
dbSNP Id:
rs374715498
ExAC:
4:187120100 C / G
gnomAD v3:
4-186198946-C-G
gnomAD v4:
4-186198946-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186198946C>G , CM000666.2:g.186198946C>G | GRCh38 |
| NC_000004.11:g.187120100C>G , CM000666.1:g.187120100C>G | GRCh37 |
| NC_000004.10:g.187357094C>G | NCBI36 |
| NG_007965.1:g.12427C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.675-11C>G MANE Select | ENSP00000368079.4:n.675-11C>G | |
| ENST00000378802.4:c.675-11C>G | ENSP00000368079.4:n.675-11C>G | |
| ENST00000507209.5:n.1516-11C>G | ||
| NM_207352.3:c.675-11C>G | NP_997235.3:n.675-11C>G | |
| XM_005262935.2:c.675-11C>G | XP_005262992.1:n.675-11C>G | |
| XM_006714184.2:c.279-11C>G | XP_006714247.1:n.279-11C>G | |
| XM_005262935.4:c.675-11C>G | XP_005262992.1:n.675-11C>G | |
| XM_017008037.1:c.279-11C>G | XP_016863526.1:n.279-11C>G | |
| NM_207352.4:c.675-11C>G MANE Select | NP_997235.3:n.675-11C>G |