Linked Data
ClinVar Variation Id:
177985
ClinVar RCV Id:
RCV000154662
RCV000172034
RCV000769431
RCV001083211
RCV000999591
RCV002408687
RCV001256735
RCV003318356
dbSNP Id:
rs140660481
ExAC:
14:23872624 C / A
gnomAD v2:
14-23872624-C-A
gnomAD v3:
14-23403415-C-A
gnomAD v4:
14-23403415-C-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23403415C>A , CM000676.2:g.23403415C>A | GRCh38 |
| NC_000014.8:g.23872624C>A , CM000676.1:g.23872624C>A | GRCh37 |
| NC_000014.7:g.22942464C>A | NCBI36 |
| NG_023444.1:g.9863G>T , LRG_389:g.9863G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.831G>T MANE Select | ENSP00000386041.3:p.Gln277His | |
| ENST00000557461.2:n.898G>T | ||
| ENST00000356287.3:c.831G>T | ENSP00000348634.3:p.Gln277His | |
| ENST00000405093.7:c.831G>T | ENSP00000386041.3:p.Gln277His | |
| ENST00000557461.1:n.885G>T | ||
| NM_002471.3:c.831G>T , LRG_389t1:c.831G>T | NP_002462.2:p.Gln277His | |
| NM_002471.4:c.831G>T MANE Select | NP_002462.2:p.Gln277His |