Linked Data
ClinVar Variation Id:
377409
dbSNP Id:
rs1057520213
gnomAD v2:
1-94466627-C-T
gnomAD v3:
1-94001071-C-T
gnomAD v4:
1-94001071-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001071C>T , CM000663.2:g.94001071C>T | GRCh38 |
| NC_000001.10:g.94466627C>T , CM000663.1:g.94466627C>T | GRCh37 |
| NC_000001.9:g.94239215C>T | NCBI36 |
| NG_009073.1:g.125079G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.6317G>A MANE Select | ENSP00000359245.3:p.Arg2106His | |
| ENST00000370225.3:c.6317G>A | ENSP00000359245.3:p.Arg2106His | |
| ENST00000536513.5:c.2693G>A | ENSP00000439707.2:p.Arg898His | |
| NM_000350.2:c.6317G>A | NP_000341.2:p.Arg2106His | |
| NM_000350.3:c.6317G>A MANE Select | NP_000341.2:p.Arg2106His |