Linked Data
dbSNP Id:
rs749799926
ExAC:
15:89866712 G / A
gnomAD v2:
15-89866712-G-A
gnomAD v4:
15-89323481-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323481G>A , CM000677.2:g.89323481G>A | GRCh38 |
| NC_000015.9:g.89866712G>A , CM000677.1:g.89866712G>A | GRCh37 |
| NC_000015.8:g.87667716G>A | NCBI36 |
| NG_008218.1:g.16315C>T | |
| NG_008218.2:g.16315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2188C>T | ENSP00000516154.1:p.Pro730Ser | |
| ENST00000268124.11:c.2188C>T MANE Select | ENSP00000268124.5:p.Pro730Ser | |
| ENST00000530292.3:c.1789C>T | ENSP00000432885.2:p.Pro597Ser | |
| ENST00000635986.2:c.2188C>T | ENSP00000490653.2:p.Pro730Ser | |
| ENST00000636774.1:c.*755C>T | ENSP00000489799.1:n.*755C>T | |
| ENST00000637238.1:c.885C>T | ENSP00000490756.1:n.885C>T | |
| ENST00000637264.1:c.1260C>T | ||
| ENST00000666746.1:c.1765C>T | ||
| ENST00000670281.1:c.508C>T | ENSP00000499709.1:p.Pro170Ser | |
| ENST00000672071.1:n.2386C>T | ||
| ENST00000672923.2:n.2291C>T | ||
| ENST00000268124.9:c.2188C>T | ENSP00000268124.5:p.Pro730Ser | |
| ENST00000442287.6:c.2188C>T | ENSP00000399851.2:p.Pro730Ser | |
| ENST00000526314.2:c.539+334C>T | ||
| ENST00000526398.1:c.337C>T | ||
| ENST00000532584.5:n.390C>T | ||
| ENST00000631044.2:c.*1612C>T | ENSP00000486730.1:n.*1612C>T | |
| NM_001126131.1:c.2188C>T | NP_001119603.1:p.Pro730Ser | |
| NM_002693.2:c.2188C>T | NP_002684.1:p.Pro730Ser | |
| NM_001126131.2:c.2188C>T | NP_001119603.1:p.Pro730Ser | |
| NM_002693.3:c.2188C>T MANE Select | NP_002684.1:p.Pro730Ser |