Linked Data
ClinVar Variation Id:
619481
ClinVar RCV Id:
RCV000758532
dbSNP Id:
rs766485086
ExAC:
15:89862309 C / T
gnomAD v2:
15-89862309-C-T
gnomAD v4:
15-89319078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89319078C>T , CM000677.2:g.89319078C>T | GRCh38 |
| NC_000015.9:g.89862309C>T , CM000677.1:g.89862309C>T | GRCh37 |
| NC_000015.8:g.87663313C>T | NCBI36 |
| NG_008218.1:g.20718G>A | |
| NG_011736.1:g.80116C>T , LRG_500:g.80116C>T | |
| NG_008218.2:g.20718G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.3126G>A | ENSP00000516154.1:p.Glu1042= | |
| ENST00000268124.11:c.3126G>A MANE Select | ENSP00000268124.5:p.Glu1042= | |
| ENST00000530292.3:c.2727G>A | ENSP00000432885.2:p.Glu909= | |
| ENST00000635986.2:c.*196G>A | ENSP00000490653.2:n.*196G>A | |
| ENST00000636530.1:n.86G>A | ||
| ENST00000636774.1:c.*1693G>A | ENSP00000489799.1:n.*1693G>A | |
| ENST00000637238.1:c.1935G>A | ENSP00000490756.1:n.1935G>A | |
| ENST00000637264.1:c.2198G>A | ||
| ENST00000666746.1:c.2703G>A | ||
| ENST00000672071.1:n.3324G>A | ||
| ENST00000672695.1:n.303G>A | ||
| ENST00000672923.2:n.3126G>A | ||
| ENST00000268124.9:c.3126G>A | ENSP00000268124.5:p.Glu1042= | |
| ENST00000442287.6:c.3126G>A | ENSP00000399851.2:p.Glu1042= | |
| ENST00000530292.2:c.210G>A | ENSP00000432885.1:p.Glu70= | |
| ENST00000631044.2:c.*2550G>A | ENSP00000486730.1:n.*2550G>A | |
| NM_001126131.1:c.3126G>A | NP_001119603.1:p.Glu1042= | |
| NM_002693.2:c.3126G>A | NP_002684.1:p.Glu1042= | |
| NM_001126131.2:c.3126G>A | NP_001119603.1:p.Glu1042= | |
| NM_002693.3:c.3126G>A MANE Select | NP_002684.1:p.Glu1042= |