Linked Data
dbSNP Id:
rs771148606
ExAC:
15:89861965 C / T
gnomAD v2:
15-89861965-C-T
gnomAD v4:
15-89318734-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318734C>T , CM000677.2:g.89318734C>T | GRCh38 |
| NC_000015.9:g.89861965C>T , CM000677.1:g.89861965C>T | GRCh37 |
| NC_000015.8:g.87662969C>T | NCBI36 |
| NG_008218.1:g.21062G>A | |
| NG_011736.1:g.79772C>T , LRG_500:g.79772C>T | |
| NG_008218.2:g.21062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3289G>A | ENSP00000516154.1:p.Val1097Met | |
| ENST00000268124.11:c.3289G>A MANE Select | ENSP00000268124.5:p.Val1097Met | |
| ENST00000530292.3:c.2890G>A | ENSP00000432885.2:p.Val964Met | |
| ENST00000635986.2:c.*359G>A | ENSP00000490653.2:n.*359G>A | |
| ENST00000636774.1:c.*1856G>A | ENSP00000489799.1:n.*1856G>A | |
| ENST00000637238.1:c.2098G>A | ENSP00000490756.1:n.2098G>A | |
| ENST00000637264.1:c.2361G>A | ||
| ENST00000666746.1:c.2866G>A | ||
| ENST00000672071.1:n.3487G>A | ||
| ENST00000672695.1:n.466G>A | ||
| ENST00000672923.2:n.3289G>A | ||
| ENST00000268124.9:c.3289G>A | ENSP00000268124.5:p.Val1097Met | |
| ENST00000442287.6:c.3289G>A | ENSP00000399851.2:p.Val1097Met | |
| ENST00000530292.2:c.373G>A | ENSP00000432885.1:p.Val125Met | |
| ENST00000631044.2:c.*2713G>A | ENSP00000486730.1:n.*2713G>A | |
| NM_001126131.1:c.3289G>A | NP_001119603.1:p.Val1097Met | |
| NM_002693.2:c.3289G>A | NP_002684.1:p.Val1097Met | |
| NM_001126131.2:c.3289G>A | NP_001119603.1:p.Val1097Met | |
| NM_002693.3:c.3289G>A MANE Select | NP_002684.1:p.Val1097Met |