Linked Data
ClinVar Variation Id:
129060
ClinVar RCV Id:
RCV000117042
RCV000199806
RCV000659655
RCV001079137
RCV002227061
RCV002313881
RCV004529961
dbSNP Id:
rs202029322
ExAC:
X:153593616 G / A
gnomAD v2:
X-153593616-G-A
gnomAD v3:
X-154365248-G-A
gnomAD v4:
X-154365248-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154365248G>A , CM000685.2:g.154365248G>A | GRCh38 |
| NC_000023.10:g.153593616G>A , CM000685.1:g.153593616G>A | GRCh37 |
| NC_000023.9:g.153246810G>A | NCBI36 |
| NG_011506.1:g.14391C>T | |
| NG_011506.2:g.14391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.1579C>T | ENSP00000353467.4:p.Arg527Cys | |
| ENST00000369850.10:c.1579C>T MANE Select | ENSP00000358866.3:p.Arg527Cys | |
| ENST00000369856.8:c.1498C>T | ENSP00000358872.4:p.Arg500Cys | |
| ENST00000422373.6:c.1579C>T | ENSP00000416926.2:p.Arg527Cys | |
| ENST00000610817.5:c.1636C>T | ENSP00000480593.2:n.1636C>T | |
| ENST00000673639.2:c.279+188C>T | ||
| ENST00000676696.1:c.1858C>T | ENSP00000503392.1:n.1858C>T | |
| ENST00000344736.8:c.1579C>T | ENSP00000358863.3:p.Arg527Cys | |
| ENST00000360319.8:c.1579C>T | ENSP00000353467.4:p.Arg527Cys | |
| ENST00000369850.7:c.1579C>T | ENSP00000358866.3:p.Arg527Cys | |
| ENST00000369856.7:c.1498C>T | ENSP00000358872.4:p.Arg500Cys | |
| ENST00000420627.5:c.1535C>T | ENSP00000408921.1:p.Ala512Val | |
| ENST00000422373.5:c.1579C>T | ENSP00000416926.1:p.Arg527Cys | |
| ENST00000610817.4:c.1498C>T | ENSP00000480593.1:p.Arg500Cys | |
| NM_001110556.1:c.1579C>T | NP_001104026.1:p.Arg527Cys | |
| NM_001456.3:c.1579C>T | NP_001447.2:p.Arg527Cys | |
| XM_011531127.1:c.1579C>T | XP_011529429.1:p.Arg527Cys | |
| XM_011531128.1:c.1579C>T | XP_011529430.1:p.Arg527Cys | |
| XM_011531129.1:c.1579C>T | XP_011529431.1:p.Arg527Cys | |
| XM_011531130.1:c.1579C>T | XP_011529432.1:p.Arg527Cys | |
| XM_011531131.1:c.1378C>T | XP_011529433.1:p.Arg460Cys | |
| NM_001110556.2:c.1579C>T MANE Select | NP_001104026.1:p.Arg527Cys | |
| NM_001456.4:c.1579C>T | NP_001447.2:p.Arg527Cys |