Linked Data
ClinVar Variation Id:
1990037
ClinVar RCV Id:
RCV002771129
dbSNP Id:
rs746603180
ExAC:
12:103288608 C / T
gnomAD v2:
12-103288608-C-T
gnomAD v3:
12-102894830-C-T
gnomAD v4:
12-102894830-C-T
COSMIC:
COSM3376086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894830C>T , CM000674.2:g.102894830C>T | GRCh38 |
| NC_000012.11:g.103288608C>T , CM000674.1:g.103288608C>T | GRCh37 |
| NC_000012.10:g.101812738C>T | NCBI36 |
| NG_008690.1:g.27773G>A | |
| NG_008690.2:g.68581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.257G>A MANE Select | ENSP00000448059.1:p.Arg86His | |
| ENST00000307000.7:c.242G>A | ENSP00000303500.2:p.Arg81His | |
| ENST00000546844.1:c.257G>A | ENSP00000446658.1:p.Arg86His | |
| ENST00000548677.2:n.344G>A | ||
| ENST00000548928.1:n.179G>A | ||
| ENST00000549111.5:n.353G>A | ||
| ENST00000550978.6:c.241G>A | ||
| ENST00000551337.5:c.257G>A | ENSP00000447620.1:p.Arg86His | |
| ENST00000551988.5:n.346G>A | ||
| ENST00000553106.5:c.257G>A | ENSP00000448059.1:p.Arg86His | |
| NM_000277.1:c.257G>A | NP_000268.1:p.Arg86His | |
| XM_011538422.1:c.257G>A | XP_011536724.1:p.Arg86His | |
| NM_000277.2:c.257G>A | NP_000268.1:p.Arg86His | |
| NM_001354304.1:c.257G>A | NP_001341233.1:p.Arg86His | |
| XM_017019370.2:c.257G>A | XP_016874859.1:p.Arg86His | |
| NM_000277.3:c.257G>A MANE Select | NP_000268.1:p.Arg86His | |
| NM_001354304.2:c.257G>A | NP_001341233.1:p.Arg86His |