Linked Data
ClinVar Variation Id:
433319
dbSNP Id:
rs63751215
ExAC:
16:16253413 G / A
gnomAD v2:
16-16253413-G-A
gnomAD v3:
16-16159556-G-A
gnomAD v4:
16-16159556-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16159556G>A , CM000678.2:g.16159556G>A | GRCh38 |
| NC_000016.9:g.16253413G>A , CM000678.1:g.16253413G>A | GRCh37 |
| NC_000016.8:g.16160914G>A | NCBI36 |
| NG_007558.2:g.68916C>T | |
| NG_007558.3:g.69062C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3661C>T | ENSP00000483331.2:p.Arg1221Cys | |
| ENST00000205557.12:c.3661C>T MANE Select | ENSP00000205557.7:p.Arg1221Cys | |
| ENST00000640696.1:c.475C>T | ENSP00000492197.1:p.Arg159Cys | |
| ENST00000205557.11:c.3661C>T | ENSP00000205557.7:p.Arg1221Cys | |
| ENST00000456970.6:c.3286C>T | ENSP00000405002.2:n.3286C>T | |
| ENST00000622290.4:c.*870C>T | ENSP00000483331.1:n.*870C>T | |
| NM_001171.5:c.3661C>T | NP_001162.4:p.Arg1221Cys | |
| XM_011522479.1:c.3628C>T | XP_011520781.1:p.Arg1210Cys | |
| XM_011522480.1:c.3319C>T | XP_011520782.1:p.Arg1107Cys | |
| XM_011522481.1:c.3319C>T | XP_011520783.1:p.Arg1107Cys | |
| XR_932836.1:n.3896C>T | ||
| XR_932837.1:n.3697C>T | ||
| XR_932838.1:n.3697C>T | ||
| XR_933134.1:n.539-225G>A | ||
| NM_001351800.1:c.3319C>T | NP_001338729.1:p.Arg1107Cys | |
| NR_147784.1:n.3323C>T | ||
| XM_011522479.2:c.3628C>T | XP_011520781.1:p.Arg1210Cys | |
| XM_011522481.3:c.3319C>T | XP_011520783.1:p.Arg1107Cys | |
| XM_017023212.1:c.3493C>T | XP_016878701.1:p.Arg1165Cys | |
| XM_024450261.1:c.3697C>T | XP_024306029.1:p.Arg1233Cys | |
| XR_932836.2:n.3842C>T | ||
| XR_932837.3:n.3642C>T | ||
| XR_932838.3:n.3642C>T | ||
| NM_001171.6:c.3661C>T MANE Select | NP_001162.5:p.Arg1221Cys |