Linked Data
ClinVar Variation Id:
6443
ClinVar RCV Id:
RCV000006813
dbSNP Id:
rs121908870
PubMed:
PMID:8954020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81143633C>A , CM000676.2:g.81143633C>A | GRCh38 |
| NC_000014.8:g.81609977C>A , CM000676.1:g.81609977C>A | GRCh37 |
| NC_000014.7:g.80679730C>A | NCBI36 |
| NG_009206.1:g.193109C>A , LRG_523:g.193109C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298171.7:c.1575C>A MANE Select | ENSP00000298171.2:p.Phe525Leu | |
| ENST00000636454.1:n.1493C>A | ||
| ENST00000637447.1:c.478C>A | ||
| ENST00000298171.6:c.1575C>A | ENSP00000298171.2:p.Phe525Leu | |
| ENST00000541158.6:c.1575C>A | ENSP00000441235.2:p.Phe525Leu | |
| NM_000369.2:c.1575C>A , LRG_523t1:c.1575C>A | NP_000360.2:p.Phe525Leu | |
| XM_005268037.3:c.1575C>A | XP_005268094.1:p.Phe525Leu | |
| XM_011537119.1:c.1296C>A | XP_011535421.1:p.Phe432Leu | |
| XR_245790.3:n.2086+21560G>T | ||
| XR_429385.2:n.853+21560G>T | ||
| XR_429386.2:n.854+21560G>T | ||
| XR_944075.1:n.865+21560G>T | ||
| XR_944076.1:n.861+21560G>T | ||
| XR_944077.1:n.865+21560G>T | ||
| XR_944078.1:n.865+21560G>T | ||
| XR_944079.1:n.855+21560G>T | ||
| XM_005268037.4:c.1575C>A | XP_005268094.1:p.Phe525Leu | |
| XM_011537119.2:c.1296C>A | XP_011535421.1:p.Phe432Leu | |
| XR_001751021.1:n.2753+21560G>T | ||
| XR_001751022.1:n.2753+21560G>T | ||
| XR_001751023.1:n.2753+21560G>T | ||
| XR_944075.3:n.929+21560G>T | ||
| NM_000369.4:c.1575C>A | NP_000360.2:p.Phe525Leu | |
| NM_000369.5:c.1575C>A MANE Select | NP_000360.2:p.Phe525Leu |