Linked Data
ClinVar Variation Id:
206557
dbSNP Id:
rs368435864
ExAC:
15:89861967 C / T
gnomAD v2:
15-89861967-C-T
gnomAD v3:
15-89318736-C-T
gnomAD v4:
15-89318736-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318736C>T , CM000677.2:g.89318736C>T | GRCh38 |
| NC_000015.9:g.89861967C>T , CM000677.1:g.89861967C>T | GRCh37 |
| NC_000015.8:g.87662971C>T | NCBI36 |
| NG_008218.1:g.21060G>A | |
| NG_011736.1:g.79774C>T , LRG_500:g.79774C>T | |
| NG_008218.2:g.21060G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3287G>A | ENSP00000516154.1:p.Arg1096His | |
| ENST00000268124.11:c.3287G>A MANE Select | ENSP00000268124.5:p.Arg1096His | |
| ENST00000530292.3:c.2888G>A | ENSP00000432885.2:p.Arg963His | |
| ENST00000635986.2:c.*357G>A | ENSP00000490653.2:n.*357G>A | |
| ENST00000636774.1:c.*1854G>A | ENSP00000489799.1:n.*1854G>A | |
| ENST00000637238.1:c.2096G>A | ENSP00000490756.1:n.2096G>A | |
| ENST00000637264.1:c.2359G>A | ||
| ENST00000666746.1:c.2864G>A | ||
| ENST00000672071.1:n.3485G>A | ||
| ENST00000672695.1:n.464G>A | ||
| ENST00000672923.2:n.3287G>A | ||
| ENST00000268124.9:c.3287G>A | ENSP00000268124.5:p.Arg1096His | |
| ENST00000442287.6:c.3287G>A | ENSP00000399851.2:p.Arg1096His | |
| ENST00000530292.2:c.371G>A | ENSP00000432885.1:p.Arg124His | |
| ENST00000631044.2:c.*2711G>A | ENSP00000486730.1:n.*2711G>A | |
| NM_001126131.1:c.3287G>A | NP_001119603.1:p.Arg1096His | |
| NM_002693.2:c.3287G>A | NP_002684.1:p.Arg1096His | |
| NM_001126131.2:c.3287G>A | NP_001119603.1:p.Arg1096His | |
| NM_002693.3:c.3287G>A MANE Select | NP_002684.1:p.Arg1096His |