Linked Data
dbSNP Id:
rs1048209443
gnomAD v2:
8-144657258-A-T
gnomAD v3:
8-143575088-A-T
gnomAD v4:
8-143575088-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143575088A>T , CM000670.2:g.143575088A>T | GRCh38 |
| NC_000008.10:g.144657258A>T , CM000670.1:g.144657258A>T | GRCh37 |
| NC_000008.9:g.144728401A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1452T>A MANE Select | ENSP00000401508.2:p.Cys484Ter | |
| ENST00000340490.7:c.1452T>A | ENSP00000341136.3:p.Cys484Ter | |
| ENST00000426292.7:c.1413T>A | ENSP00000390949.3:p.Cys471Ter | |
| ENST00000435154.7:c.*76T>A | ENSP00000405670.3:n.*76T>A | |
| ENST00000449291.6:c.1452T>A | ENSP00000401508.2:p.Cys484Ter | |
| ENST00000460623.5:c.391T>A | ||
| ENST00000464332.5:n.996T>A | ||
| ENST00000498076.5:n.231T>A | ||
| ENST00000529179.1:n.236T>A | ||
| NM_001286829.1:c.1413T>A | NP_001273758.1:p.Cys471Ter | |
| NM_145201.5:c.1452T>A | NP_660202.3:p.Cys484Ter | |
| XM_011517377.1:c.1292-188T>A | XP_011515679.1:n.1292-188T>A | |
| NM_001363145.1:c.1371T>A | NP_001350074.1:p.Cys457Ter | |
| NM_001363146.1:c.768T>A | NP_001350075.1:p.Cys256Ter | |
| XM_017013975.2:c.1671T>A | XP_016869464.1:p.Cys557Ter | |
| XM_017013976.2:c.1671T>A | XP_016869465.1:p.Cys557Ter | |
| XM_017013977.2:c.1371T>A | XP_016869466.1:p.Cys457Ter | |
| XM_017013978.2:c.1511-188T>A | XP_016869467.1:n.1511-188T>A | |
| XM_017013979.2:c.768T>A | XP_016869468.1:p.Cys256Ter | |
| XM_024447332.1:c.929-188T>A | XP_024303100.1:n.929-188T>A | |
| XM_024447333.1:c.687T>A | XP_024303101.1:p.Cys229Ter | |
| NM_145201.6:c.1452T>A MANE Select | NP_660202.3:p.Cys484Ter | |
| NM_001286829.2:c.1413T>A | NP_001273758.1:p.Cys471Ter |