Linked Data
dbSNP Id:
rs983216980
gnomAD v2:
8-134260774-G-A
gnomAD v3:
8-133248531-G-A
gnomAD v4:
8-133248531-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133248531G>A , CM000670.2:g.133248531G>A | GRCh38 |
| NC_000008.10:g.134260774G>A , CM000670.1:g.134260774G>A | GRCh37 |
| NC_000008.9:g.134329956G>A | NCBI36 |
| NG_007943.1:g.53725C>T , LRG_258:g.53725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.755+184C>T MANE Select | ENSP00000319977.8:n.755+184C>T | |
| ENST00000537882.3:c.755+184C>T | ENSP00000437443.2:n.755+184C>T | |
| ENST00000675068.1:c.57+184C>T | ||
| ENST00000675860.1:n.520+184C>T | ||
| ENST00000323851.11:c.755+184C>T | ENSP00000319977.7:n.755+184C>T | |
| ENST00000414097.6:c.755+184C>T | ENSP00000404854.2:n.755+184C>T | |
| ENST00000517331.5:n.473+184C>T | ||
| ENST00000517599.5:c.*361+184C>T | ENSP00000429172.1:n.*361+184C>T | |
| ENST00000518066.5:c.37-6475C>T | ENSP00000431057.1:n.37-6475C>T | |
| ENST00000518176.5:c.49-1868C>T | ENSP00000429007.1:n.49-1868C>T | |
| ENST00000519278.5:n.1851+184C>T | ||
| ENST00000521414.5:n.217+184C>T | ||
| ENST00000521664.1:n.505+184C>T | ||
| ENST00000522377.5:c.*235+184C>T | ENSP00000429380.1:n.*235+184C>T | |
| ENST00000522476.5:c.557+184C>T | ENSP00000427894.1:n.557+184C>T | |
| ENST00000522665.5:n.78+184C>T | ||
| ENST00000537882.2:c.512+184C>T | ENSP00000437443.1:n.512+184C>T | |
| NM_001135242.1:c.755+184C>T | NP_001128714.1:n.755+184C>T | |
| NM_001258432.1:c.557+184C>T | NP_001245361.1:n.557+184C>T | |
| NM_001258433.1:c.512+184C>T | NP_001245362.1:n.512+184C>T | |
| NM_006096.3:c.755+184C>T , LRG_258t1:c.755+184C>T | NP_006087.2:n.755+184C>T | |
| XM_011516791.1:c.806+184C>T | XP_011515093.1:n.806+184C>T | |
| XM_011516792.1:c.188+184C>T | XP_011515094.1:n.188+184C>T | |
| XM_011516792.2:c.188+184C>T | XP_011515094.1:n.188+184C>T | |
| NM_001135242.2:c.755+184C>T | NP_001128714.1:n.755+184C>T | |
| NM_001258432.2:c.557+184C>T | NP_001245361.1:n.557+184C>T | |
| NM_001258433.2:c.512+184C>T | NP_001245362.1:n.512+184C>T | |
| NM_001374844.1:c.806+184C>T | NP_001361773.1:n.806+184C>T | |
| NM_001374845.1:c.755+184C>T | NP_001361774.1:n.755+184C>T | |
| NM_001374846.1:c.755+184C>T | NP_001361775.1:n.755+184C>T | |
| NM_001374847.1:c.557+184C>T | NP_001361776.1:n.557+184C>T | |
| NM_006096.4:c.755+184C>T MANE Select | NP_006087.2:n.755+184C>T |