Linked Data
dbSNP Id:
rs368456211
ExAC:
7:1022990 G / A
gnomAD v2:
7-1022990-G-A
gnomAD v3:
7-983354-G-A
gnomAD v4:
7-983354-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.983354G>A , CM000669.2:g.983354G>A | GRCh38 |
| NC_000007.13:g.1022990G>A , CM000669.1:g.1022990G>A | GRCh37 |
| NC_000007.12:g.989516G>A | NCBI36 |
| NG_007934.1:g.5156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308919.12:c.143G>A (CYP2W1) MANE Select | ENSP00000310149.7:p.Arg48His | |
| ENST00000308919.11:c.143G>A (CYP2W1) | ENSP00000310149.7:p.Arg48His | |
| NM_017781.2:c.143G>A (CYP2W1) | NP_060251.2:p.Arg48His | |
| XM_005249889.3:c.523-4293C>T (C7orf50) | XP_005249946.2:n.523-4293C>T | |
| XM_011515440.1:c.143G>A (CYP2W1) | XP_011513742.1:p.Arg48His | |
| XM_011515441.1:c.143G>A (CYP2W1) | XP_011513743.1:p.Arg48His | |
| XM_011515580.1:c.1108-4293C>T (C7orf50) | XP_011513882.1:n.1108-4293C>T | |
| XM_011515581.1:c.565-4293C>T (C7orf50) | XP_011513883.1:n.565-4293C>T | |
| XM_011515582.1:c.565-4293C>T (C7orf50) | XP_011513884.1:n.565-4293C>T | |
| XM_011515583.1:c.565-4293C>T (C7orf50) | XP_011513885.1:n.565-4293C>T | |
| XM_011515584.1:c.565-4293C>T (C7orf50) | XP_011513886.1:n.565-4293C>T | |
| NR_156697.1:n.548-4293C>T (C7orf50) | ||
| XM_011515440.3:c.143G>A (CYP2W1) | XP_011513742.1:p.Arg48His | |
| XM_011515441.3:c.143G>A (CYP2W1) | XP_011513743.1:p.Arg48His | |
| XM_011515581.3:c.565-4293C>T (C7orf50) | XP_011513883.1:n.565-4293C>T | |
| XM_011515582.3:c.565-4293C>T (C7orf50) | XP_011513884.1:n.565-4293C>T | |
| XM_011515583.2:c.565-4293C>T (C7orf50) | XP_011513885.1:n.565-4293C>T | |
| XM_011515584.2:c.565-4293C>T (C7orf50) | XP_011513886.1:n.565-4293C>T | |
| XM_017012720.2:c.565-4293C>T (C7orf50) | XP_016868209.1:n.565-4293C>T | |
| XM_017012721.2:c.523-4293C>T (C7orf50) | XP_016868210.1:n.523-4293C>T | |
| NM_017781.3:c.143G>A (CYP2W1) MANE Select | NP_060251.2:p.Arg48His | |
| NR_156697.2:n.548-4293C>T (C7orf50) |