Linked Data
ClinVar Variation Id:
593423
dbSNP Id:
rs1405268319
gnomAD v2:
15-89861871-C-T
gnomAD v3:
15-89318640-C-T
gnomAD v4:
15-89318640-C-T
COSMIC:
COSM1262688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318640C>T , CM000677.2:g.89318640C>T | GRCh38 |
| NC_000015.9:g.89861871C>T , CM000677.1:g.89861871C>T | GRCh37 |
| NC_000015.8:g.87662875C>T | NCBI36 |
| NG_008218.1:g.21156G>A | |
| NG_011736.1:g.79678C>T , LRG_500:g.79678C>T | |
| NG_008218.2:g.21156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3383G>A | ENSP00000516154.1:p.Arg1128His | |
| ENST00000268124.11:c.3383G>A MANE Select | ENSP00000268124.5:p.Arg1128His | |
| ENST00000530292.3:c.2984G>A | ENSP00000432885.2:p.Arg995His | |
| ENST00000635986.2:c.*453G>A | ENSP00000490653.2:n.*453G>A | |
| ENST00000636774.1:c.*1950G>A | ENSP00000489799.1:n.*1950G>A | |
| ENST00000637238.1:c.2192G>A | ENSP00000490756.1:n.2192G>A | |
| ENST00000637264.1:c.2455G>A | ||
| ENST00000666746.1:c.2960G>A | ||
| ENST00000672071.1:n.3581G>A | ||
| ENST00000672695.1:n.560G>A | ||
| ENST00000672923.2:n.3383G>A | ||
| ENST00000268124.9:c.3383G>A | ENSP00000268124.5:p.Arg1128His | |
| ENST00000442287.6:c.3383G>A | ENSP00000399851.2:p.Arg1128His | |
| ENST00000530292.2:c.467G>A | ENSP00000432885.1:p.Arg156His | |
| ENST00000631044.2:c.*2807G>A | ENSP00000486730.1:n.*2807G>A | |
| NM_001126131.1:c.3383G>A | NP_001119603.1:p.Arg1128His | |
| NM_002693.2:c.3383G>A | NP_002684.1:p.Arg1128His | |
| NM_001126131.2:c.3383G>A | NP_001119603.1:p.Arg1128His | |
| NM_002693.3:c.3383G>A MANE Select | NP_002684.1:p.Arg1128His |