Linked Data
ClinVar Variation Id:
42886
ClinVar RCV Id:
RCV000035773
RCV000148962
RCV000628894
RCV001092198
RCV001110427
RCV001110428
RCV002415463
RCV003320052
dbSNP Id:
rs397516135
gnomAD v3:
14-23425813-C-T
gnomAD v4:
14-23425813-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23425813C>T , CM000676.2:g.23425813C>T | GRCh38 |
| NC_000014.8:g.23895022C>T , CM000676.1:g.23895022C>T | GRCh37 |
| NC_000014.7:g.22964862C>T | NCBI36 |
| NG_007884.1:g.14849G>A , LRG_384:g.14849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2168G>A MANE Select | ENSP00000347507.3:p.Arg723His | |
| ENST00000355349.3:c.2168G>A | ENSP00000347507.3:p.Arg723His | |
| NM_000257.3:c.2168G>A | NP_000248.2:p.Arg723His | |
| XR_245686.3:n.2274G>A | ||
| XM_017021340.1:c.2168G>A | XP_016876829.1:p.Arg723His | |
| NM_000257.4:c.2168G>A MANE Select | NP_000248.2:p.Arg723His |