Linked Data
ClinVar Variation Id:
323517
dbSNP Id:
rs538778224
ExAC:
17:42338066 G / A
gnomAD v2:
17-42338066-G-A
gnomAD v3:
17-44260698-G-A
gnomAD v4:
17-44260698-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44260698G>A , CM000679.2:g.44260698G>A | GRCh38 |
| NC_000017.10:g.42338066G>A , CM000679.1:g.42338066G>A | GRCh37 |
| NC_000017.9:g.39693592G>A | NCBI36 |
| NG_007498.1:g.12437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.286C>T MANE Select | ENSP00000262418.6:p.Arg96Cys | |
| ENST00000262418.10:c.286C>T | ENSP00000262418.6:p.Arg96Cys | |
| ENST00000399246.3:c.286C>T | ENSP00000382190.3:p.Arg96Cys | |
| ENST00000471005.5:n.220C>T | ||
| ENST00000497360.5:n.425C>T | ||
| NM_000342.3:c.286C>T | NP_000333.1:p.Arg96Cys | |
| XM_005257593.3:c.91C>T | XP_005257650.1:p.Arg31Cys | |
| XM_011525129.1:c.286C>T | XP_011523431.1:p.Arg96Cys | |
| XM_011525130.1:c.286C>T | XP_011523432.1:p.Arg96Cys | |
| XM_011525131.1:c.286C>T | XP_011523433.1:p.Arg96Cys | |
| XM_005257593.5:c.91C>T | XP_005257650.1:p.Arg31Cys | |
| XM_011525129.2:c.286C>T | XP_011523431.1:p.Arg96Cys | |
| NM_000342.4:c.286C>T MANE Select | NP_000333.1:p.Arg96Cys |