Linked Data
dbSNP Id:
rs749259550
ExAC:
15:68506603 G / C
gnomAD v2:
15-68506603-G-C
gnomAD v4:
15-68214265-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68214265G>C , CM000677.2:g.68214265G>C | GRCh38 |
| NC_000015.9:g.68506603G>C , CM000677.1:g.68506603G>C | GRCh37 |
| NC_000015.8:g.66293657G>C | NCBI36 |
| NG_008764.2:g.47947C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.297+25C>G MANE Select | ENSP00000249806.5:n.297+25C>G | |
| ENST00000562767.2:c.83+15237C>G | ENSP00000456336.1:n.83+15237C>G | |
| ENST00000563917.2:n.139+25C>G | ||
| ENST00000565471.6:c.84-4506C>G | ENSP00000457384.1:n.84-4506C>G | |
| ENST00000635747.1:c.*200+25C>G | ENSP00000490627.1:n.*200+25C>G | |
| ENST00000635754.1:n.1344C>G | ||
| ENST00000636020.1:n.454C>G | ||
| ENST00000636212.1:c.297+25C>G | ENSP00000489851.1:n.297+25C>G | |
| ENST00000636314.1:c.182+25C>G | ENSP00000490295.1:n.182+25C>G | |
| ENST00000637054.1:c.198+4271C>G | ENSP00000490807.1:n.198+4271C>G | |
| ENST00000637223.1:c.*200+25C>G | ENSP00000490010.1:n.*200+25C>G | |
| ENST00000637329.1:c.208+25C>G | ||
| ENST00000637450.1:c.182+25C>G | ENSP00000490204.1:n.182+25C>G | |
| ENST00000637494.1:c.199-2947C>G | ENSP00000490057.1:n.199-2947C>G | |
| ENST00000637667.1:c.199-2402C>G | ENSP00000489843.1:n.199-2402C>G | |
| ENST00000637823.1:c.223+25C>G | ||
| ENST00000637888.1:c.198+4271C>G | ENSP00000490546.1:n.198+4271C>G | |
| ENST00000638076.1:c.297+25C>G | ENSP00000490373.1:n.297+25C>G | |
| ENST00000638144.1:n.129+25C>G | ||
| ENST00000646164.1:c.38+4271C>G | ||
| ENST00000249806.9:c.297+25C>G | ENSP00000249806.5:n.297+25C>G | |
| ENST00000538696.5:c.393+25C>G | ENSP00000445770.1:n.393+25C>G | |
| ENST00000562767.1:c.83+15237C>G | ENSP00000456336.1:n.83+15237C>G | |
| ENST00000563917.1:n.78+25C>G | ||
| ENST00000564752.1:c.297+25C>G | ENSP00000457822.1:n.297+25C>G | |
| ENST00000564846.1:n.754C>G | ||
| ENST00000565471.5:c.84-4506C>G | ENSP00000457384.1:n.84-4506C>G | |
| ENST00000566347.5:c.297+25C>G | ENSP00000457783.1:n.297+25C>G | |
| ENST00000567060.5:c.297+25C>G | ENSP00000454818.1:n.297+25C>G | |
| NM_017882.2:c.297+25C>G | NP_060352.1:n.297+25C>G | |
| XR_931861.1:n.400+25C>G | ||
| NM_017882.3:c.297+25C>G MANE Select | NP_060352.1:n.297+25C>G |