Linked Data
dbSNP Id:
rs780017269
ExAC:
15:89868717 G / C
gnomAD v2:
15-89868717-G-C
gnomAD v4:
15-89325486-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325486G>C , CM000677.2:g.89325486G>C | GRCh38 |
| NC_000015.9:g.89868717G>C , CM000677.1:g.89868717G>C | GRCh37 |
| NC_000015.8:g.87669721G>C | NCBI36 |
| NG_008218.1:g.14310C>G | |
| NG_008218.2:g.14310C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1913C>G | ENSP00000516154.1:p.Thr638Ser | |
| ENST00000268124.11:c.1913C>G MANE Select | ENSP00000268124.5:p.Thr638Ser | |
| ENST00000530292.3:c.1514C>G | ENSP00000432885.2:p.Thr505Ser | |
| ENST00000635986.2:c.1913C>G | ENSP00000490653.2:p.Thr638Ser | |
| ENST00000636774.1:c.*480C>G | ENSP00000489799.1:n.*480C>G | |
| ENST00000637238.1:c.646+4C>G | ENSP00000490756.1:n.646+4C>G | |
| ENST00000637264.1:c.985C>G | ||
| ENST00000666746.1:c.1490C>G | ||
| ENST00000670281.1:c.233C>G | ENSP00000499709.1:p.Thr78Ser | |
| ENST00000672071.1:n.2111C>G | ||
| ENST00000672923.2:n.2016C>G | ||
| ENST00000268124.9:c.1913C>G | ENSP00000268124.5:p.Thr638Ser | |
| ENST00000442287.6:c.1913C>G | ENSP00000399851.2:p.Thr638Ser | |
| ENST00000526314.2:c.295C>G | ||
| ENST00000526398.1:c.102C>G | ||
| ENST00000532584.5:n.115C>G | ||
| ENST00000631044.2:c.*1296C>G | ENSP00000486730.1:n.*1296C>G | |
| NM_001126131.1:c.1913C>G | NP_001119603.1:p.Thr638Ser | |
| NM_002693.2:c.1913C>G | NP_002684.1:p.Thr638Ser | |
| NM_001126131.2:c.1913C>G | NP_001119603.1:p.Thr638Ser | |
| NM_002693.3:c.1913C>G MANE Select | NP_002684.1:p.Thr638Ser |