Linked Data
dbSNP Id:
rs757303144
ExAC:
15:89866599 G / C
gnomAD v2:
15-89866599-G-C
gnomAD v4:
15-89323368-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323368G>C , CM000677.2:g.89323368G>C | GRCh38 |
| NC_000015.9:g.89866599G>C , CM000677.1:g.89866599G>C | GRCh37 |
| NC_000015.8:g.87667603G>C | NCBI36 |
| NG_008218.1:g.16428C>G | |
| NG_008218.2:g.16428C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.2265+36C>G | ENSP00000516154.1:n.2265+36C>G | |
| ENST00000268124.11:c.2265+36C>G MANE Select | ENSP00000268124.5:n.2265+36C>G | |
| ENST00000530292.3:c.1866+36C>G | ENSP00000432885.2:n.1866+36C>G | |
| ENST00000635986.2:c.2265+36C>G | ENSP00000490653.2:n.2265+36C>G | |
| ENST00000636774.1:c.*832+36C>G | ENSP00000489799.1:n.*832+36C>G | |
| ENST00000637238.1:c.962+36C>G | ENSP00000490756.1:n.962+36C>G | |
| ENST00000637264.1:c.1337+36C>G | ||
| ENST00000666746.1:c.1842+36C>G | ||
| ENST00000670281.1:c.585+36C>G | ENSP00000499709.1:n.585+36C>G | |
| ENST00000672071.1:n.2463+36C>G | ||
| ENST00000672923.2:n.2368+36C>G | ||
| ENST00000268124.9:c.2265+36C>G | ENSP00000268124.5:n.2265+36C>G | |
| ENST00000442287.6:c.2265+36C>G | ENSP00000399851.2:n.2265+36C>G | |
| ENST00000526314.2:c.539+447C>G | ||
| ENST00000526398.1:c.414+36C>G | ||
| ENST00000528881.2:c.34+36C>G | ||
| ENST00000530715.5:c.24+36C>G | ENSP00000431395.1:n.24+36C>G | |
| ENST00000532584.5:n.467+36C>G | ||
| ENST00000631044.2:c.*1689+36C>G | ENSP00000486730.1:n.*1689+36C>G | |
| NM_001126131.1:c.2265+36C>G | NP_001119603.1:n.2265+36C>G | |
| NM_002693.2:c.2265+36C>G | NP_002684.1:n.2265+36C>G | |
| NM_001126131.2:c.2265+36C>G | NP_001119603.1:n.2265+36C>G | |
| NM_002693.3:c.2265+36C>G MANE Select | NP_002684.1:n.2265+36C>G |