Linked Data
ClinVar Variation Id:
204377
ClinVar RCV Id:
RCV000209700
dbSNP Id:
rs869312124
gnomAD v4:
19-41422361-G-C
PubMed:
PMID:26257134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422361G>C , CM000681.2:g.41422361G>C | GRCh38 |
| NC_000019.9:g.41928266G>C , CM000681.1:g.41928266G>C | GRCh37 |
| NC_000019.8:g.46620106G>C | NCBI36 |
| NG_013004.1:g.29573G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.844G>C MANE Select | ENSP00000269980.2:p.Asp282His | |
| ENST00000269980.6:c.844G>C | ENSP00000269980.2:p.Asp282His | |
| ENST00000457836.6:c.778G>C | ENSP00000416000.2:p.Asp260His | |
| ENST00000535632.5:n.473G>C | ||
| ENST00000540732.3:c.946G>C | ENSP00000443246.1:p.Asp316His | |
| ENST00000542943.5:c.757G>C | ENSP00000440345.1:p.Asp253His | |
| ENST00000545787.1:n.472G>C | ||
| ENST00000595085.5:c.844G>C | ENSP00000471150.2:p.Asp282His | |
| NM_000709.3:c.844G>C | NP_000700.1:p.Asp282His | |
| NM_001164783.1:c.844G>C | NP_001158255.1:p.Asp282His | |
| NM_000709.4:c.844G>C MANE Select | NP_000700.1:p.Asp282His | |
| NM_001164783.2:c.844G>C | NP_001158255.1:p.Asp282His |