Linked Data
dbSNP Id:
rs11006263
gnomAD v2:
10-60555578-A-G
gnomAD v3:
10-58795818-A-G
gnomAD v4:
10-58795818-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58795818A>G , CM000672.2:g.58795818A>G | GRCh38 |
| NC_000010.10:g.60555578A>G , CM000672.1:g.60555578A>G | GRCh37 |
| NC_000010.9:g.60225584A>G | NCBI36 |
| NG_029759.2:g.287675A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373886.8:c.1180-522A>G MANE Select | ENSP00000362993.3:n.1180-522A>G | |
| ENST00000263103.1:c.58-522A>G | ENSP00000263103.1:n.58-522A>G | |
| ENST00000373886.7:c.1180-522A>G | ENSP00000362993.3:n.1180-522A>G | |
| NM_001080512.2:c.1180-522A>G | NP_001073981.1:n.1180-522A>G | |
| XM_005270169.3:c.1039-522A>G | XP_005270226.1:n.1039-522A>G | |
| XM_011540185.1:c.1252-522A>G | XP_011538487.1:n.1252-522A>G | |
| XM_011540186.1:c.1252-522A>G | XP_011538488.1:n.1252-522A>G | |
| XM_011540187.1:c.1252-522A>G | XP_011538489.1:n.1252-522A>G | |
| XM_011540188.1:c.1036-522A>G | XP_011538490.1:n.1036-522A>G | |
| XM_011540189.1:c.1024-522A>G | XP_011538491.1:n.1024-522A>G | |
| XM_011540190.1:c.940-522A>G | XP_011538492.1:n.940-522A>G | |
| XM_011540191.1:c.796-522A>G | XP_011538493.1:n.796-522A>G | |
| XM_005270169.5:c.1039-522A>G | XP_005270226.1:n.1039-522A>G | |
| XM_011540185.2:c.1252-522A>G | XP_011538487.1:n.1252-522A>G | |
| XM_011540190.3:c.940-522A>G | XP_011538492.1:n.940-522A>G | |
| XM_011540191.2:c.796-522A>G | XP_011538493.1:n.796-522A>G | |
| XM_017016677.1:c.1048-522A>G | XP_016872166.1:n.1048-522A>G | |
| XM_017016678.1:c.1036-522A>G | XP_016872167.1:n.1036-522A>G | |
| XM_024448174.1:c.1267-522A>G | XP_024303942.1:n.1267-522A>G | |
| XM_024448175.1:c.940-522A>G | XP_024303943.1:n.940-522A>G | |
| NM_001080512.3:c.1180-522A>G MANE Select | NP_001073981.1:n.1180-522A>G |