Linked Data
ClinVar Variation Id:
95411
ClinVar RCV Id:
RCV000081433
RCV000289611
RCV000381688
RCV000418552
RCV002311636
RCV003445492
RCV001510467
RCV003445494
RCV003445493
dbSNP Id:
rs11537641
ExAC:
1:43396414 G / A
gnomAD v2:
1-43396414-G-A
gnomAD v3:
1-42930743-G-A
gnomAD v4:
1-42930743-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930743G>A , CM000663.2:g.42930743G>A | GRCh38 |
| NC_000001.10:g.43396414G>A , CM000663.1:g.43396414G>A | GRCh37 |
| NC_000001.9:g.43169001G>A | NCBI36 |
| NG_008232.1:g.33434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.399C>T MANE Select | ENSP00000416293.2:p.Cys133= | |
| ENST00000674765.1:c.399C>T | ENSP00000501811.1:p.Cys133= | |
| ENST00000675112.1:n.422C>T | ||
| ENST00000676254.1:n.848C>T | ||
| ENST00000372500.4:c.303C>T | ENSP00000361578.4:p.Cys101= | |
| ENST00000426263.7:c.399C>T | ENSP00000416293.2:p.Cys133= | |
| ENST00000439722.2:c.278C>T | ENSP00000395521.2:n.278C>T | |
| ENST00000475162.3:c.298C>T | ||
| ENST00000625233.2:n.607C>T | ||
| ENST00000630287.2:c.399C>T | ENSP00000486694.1:p.Cys133= | |
| NM_006516.2:c.399C>T | NP_006507.2:p.Cys133= | |
| NM_006516.3:c.399C>T | NP_006507.2:p.Cys133= | |
| NM_006516.4:c.399C>T MANE Select | NP_006507.2:p.Cys133= |