Linked Data
dbSNP Id:
rs776720231
ExAC:
15:89861896 A / G
gnomAD v2:
15-89861896-A-G
gnomAD v3:
15-89318665-A-G
gnomAD v4:
15-89318665-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318665A>G , CM000677.2:g.89318665A>G | GRCh38 |
| NC_000015.9:g.89861896A>G , CM000677.1:g.89861896A>G | GRCh37 |
| NC_000015.8:g.87662900A>G | NCBI36 |
| NG_008218.1:g.21131T>C | |
| NG_011736.1:g.79703A>G , LRG_500:g.79703A>G | |
| NG_008218.2:g.21131T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3358T>C | ENSP00000516154.1:p.Phe1120Leu | |
| ENST00000268124.11:c.3358T>C MANE Select | ENSP00000268124.5:p.Phe1120Leu | |
| ENST00000530292.3:c.2959T>C | ENSP00000432885.2:p.Phe987Leu | |
| ENST00000635986.2:c.*428T>C | ENSP00000490653.2:n.*428T>C | |
| ENST00000636774.1:c.*1925T>C | ENSP00000489799.1:n.*1925T>C | |
| ENST00000637238.1:c.2167T>C | ENSP00000490756.1:n.2167T>C | |
| ENST00000637264.1:c.2430T>C | ||
| ENST00000666746.1:c.2935T>C | ||
| ENST00000672071.1:n.3556T>C | ||
| ENST00000672695.1:n.535T>C | ||
| ENST00000672923.2:n.3358T>C | ||
| ENST00000268124.9:c.3358T>C | ENSP00000268124.5:p.Phe1120Leu | |
| ENST00000442287.6:c.3358T>C | ENSP00000399851.2:p.Phe1120Leu | |
| ENST00000530292.2:c.442T>C | ENSP00000432885.1:p.Phe148Leu | |
| ENST00000631044.2:c.*2782T>C | ENSP00000486730.1:n.*2782T>C | |
| NM_001126131.1:c.3358T>C | NP_001119603.1:p.Phe1120Leu | |
| NM_002693.2:c.3358T>C | NP_002684.1:p.Phe1120Leu | |
| NM_001126131.2:c.3358T>C | NP_001119603.1:p.Phe1120Leu | |
| NM_002693.3:c.3358T>C MANE Select | NP_002684.1:p.Phe1120Leu |