Linked Data
ClinVar Variation Id:
879433
ClinVar RCV Id:
RCV001106936
dbSNP Id:
rs376074317
ExAC:
10:104596919 C / T
gnomAD v2:
10-104596919-C-T
gnomAD v3:
10-102837162-C-T
gnomAD v4:
10-102837162-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102837162C>T , CM000672.2:g.102837162C>T | GRCh38 |
| NC_000010.10:g.104596919C>T , CM000672.1:g.104596919C>T | GRCh37 |
| NC_000010.9:g.104586909C>T | NCBI36 |
| NG_007955.1:g.5372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.200G>A MANE Select | ENSP00000358903.3:p.Arg67His | |
| ENST00000638190.1:c.200G>A | ENSP00000492539.1:p.Arg67His | |
| ENST00000638272.1:c.200G>A | ENSP00000491508.1:p.Arg67His | |
| ENST00000638971.1:c.200G>A | ENSP00000492313.1:p.Arg67His | |
| ENST00000639393.1:c.200G>A | ENSP00000492651.1:p.Arg67His | |
| ENST00000369887.3:c.200G>A | ENSP00000358903.3:p.Arg67His | |
| ENST00000489268.1:n.253G>A | ||
| NM_000102.3:c.200G>A | NP_000093.1:p.Arg67His | |
| NM_000102.4:c.200G>A MANE Select | NP_000093.1:p.Arg67His |