Linked Data
ClinVar Variation Id:
180651
ClinVar RCV Id:
RCV000157612
RCV000519980
RCV000692455
RCV001275349
RCV001826858
RCV002252009
RCV004535028
dbSNP Id:
rs201958741
ExAC:
3:81627150 C / T
gnomAD v2:
3-81627150-C-T
gnomAD v3:
3-81577999-C-T
gnomAD v4:
3-81577999-C-T
PubMed:
PMID:10762170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81577999C>T , CM000665.2:g.81577999C>T | GRCh38 |
| NC_000003.11:g.81627150C>T , CM000665.1:g.81627150C>T | GRCh37 |
| NC_000003.10:g.81709840C>T | NCBI36 |
| NG_011810.1:g.188802G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1544G>A MANE Select | ENSP00000410833.2:p.Arg515His | |
| ENST00000429644.6:c.1544G>A | ENSP00000410833.2:p.Arg515His | |
| ENST00000489715.1:c.1421G>A | ENSP00000419638.1:p.Arg474His | |
| NM_000158.3:c.1544G>A | NP_000149.3:p.Arg515His | |
| NM_000158.4:c.1544G>A MANE Select | NP_000149.4:p.Arg515His |