Linked Data
ClinVar Variation Id:
8788
ClinVar RCV Id:
RCV003555986
dbSNP Id:
rs121434640
ExAC:
11:47256423 G / A
gnomAD v2:
11-47256423-G-A
gnomAD v3:
11-47234872-G-A
gnomAD v4:
11-47234872-G-A
PubMed:
PMID:10585395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47234872G>A , CM000673.2:g.47234872G>A | GRCh38 |
| NC_000011.9:g.47256423G>A , CM000673.1:g.47256423G>A | GRCh37 |
| NC_000011.8:g.47212999G>A | NCBI36 |
| NG_009365.1:g.24931G>A , LRG_467:g.24931G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256996.9:c.818G>A MANE Select | ENSP00000256996.4:p.Arg273His | |
| ENST00000256996.8:c.818G>A | ENSP00000256996.3:p.Arg273His | |
| ENST00000378600.7:c.457-2965G>A | ENSP00000367863.3:n.457-2965G>A | |
| ENST00000378601.7:c.702+200G>A | ENSP00000367864.3:n.702+200G>A | |
| ENST00000378603.7:c.626G>A | ENSP00000367866.3:p.Arg209His | |
| ENST00000612309.4:n.1932G>A | ||
| ENST00000614394.1:n.208G>A | ||
| ENST00000616278.4:c.556+200G>A | ENSP00000478411.1:n.556+200G>A | |
| ENST00000617022.4:n.1554-2965G>A | ||
| ENST00000617847.4:c.747G>A | ||
| ENST00000620515.1:n.46+200G>A | ||
| NM_000107.2:c.818G>A , LRG_467t1:c.818G>A | NP_000098.1:p.Arg273His | |
| NM_001300734.1:c.457-2965G>A | NP_001287663.1:n.457-2965G>A | |
| XR_242780.3:n.870+200G>A | ||
| XR_242780.4:n.870+200G>A | ||
| NM_000107.3:c.818G>A MANE Select | NP_000098.1:p.Arg273His | |
| NM_001300734.2:c.457-2965G>A | NP_001287663.1:n.457-2965G>A | |
| NM_001399874.1:c.818G>A | NP_001386803.1:p.Arg273His | |
| NM_001399875.1:c.818G>A | NP_001386804.1:p.Arg273His | |
| NM_001399876.1:c.457-2965G>A | NP_001386805.1:n.457-2965G>A | |
| NM_001399878.1:c.626G>A | NP_001386807.1:p.Arg209His | |
| NR_174610.1:n.1131+200G>A | ||
| NR_174611.1:n.1105G>A |