Linked Data
dbSNP Id:
rs10823116
gnomAD v2:
10-69683445-A-G
gnomAD v3:
10-67923688-A-G
gnomAD v4:
10-67923688-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67923688A>G , CM000672.2:g.67923688A>G | GRCh38 |
| NC_000010.10:g.69683445A>G , CM000672.1:g.69683445A>G | GRCh37 |
| NC_000010.9:g.69353451A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373700.9:c.2942-549T>C MANE Select | ENSP00000362804.4:n.2942-549T>C | |
| ENST00000277817.10:c.2636-549T>C | ENSP00000277817.6:n.2636-549T>C | |
| ENST00000373700.8:c.2942-549T>C | ENSP00000362804.4:n.2942-549T>C | |
| ENST00000395198.7:c.2966-549T>C | ENSP00000378624.3:n.2966-549T>C | |
| ENST00000412272.6:c.2732-549T>C | ENSP00000416504.2:n.2732-549T>C | |
| ENST00000427635.6:c.5736-549T>C | ||
| ENST00000473533.6:c.*2336-549T>C | ENSP00000423671.1:n.*2336-549T>C | |
| NM_001278185.1:c.2732-549T>C | NP_001265114.1:n.2732-549T>C | |
| NM_001278186.1:c.2177-549T>C | NP_001265115.1:n.2177-549T>C | |
| NM_015601.3:c.2942-549T>C | NP_056416.2:n.2942-549T>C | |
| NM_022079.2:c.2966-549T>C | NP_071362.1:n.2966-549T>C | |
| XM_011539592.1:c.3038-549T>C | XP_011537894.1:n.3038-549T>C | |
| XM_011539593.1:c.3014-549T>C | XP_011537895.1:n.3014-549T>C | |
| XM_011539594.1:c.2828-549T>C | XP_011537896.1:n.2828-549T>C | |
| XM_011539595.1:c.2828-549T>C | XP_011537897.1:n.2828-549T>C | |
| XM_011539596.1:c.2756-549T>C | XP_011537898.1:n.2756-549T>C | |
| XM_011539597.1:c.2675-549T>C | XP_011537899.1:n.2675-549T>C | |
| XM_011539592.3:c.3038-549T>C | XP_011537894.1:n.3038-549T>C | |
| XM_011539593.3:c.3014-549T>C | XP_011537895.1:n.3014-549T>C | |
| XM_011539594.2:c.2828-549T>C | XP_011537896.1:n.2828-549T>C | |
| XM_011539595.2:c.2828-549T>C | XP_011537897.1:n.2828-549T>C | |
| XM_011539596.2:c.2756-549T>C | XP_011537898.1:n.2756-549T>C | |
| XM_011539597.3:c.2675-549T>C | XP_011537899.1:n.2675-549T>C | |
| XM_017016041.2:c.2603-549T>C | XP_016871530.1:n.2603-549T>C | |
| XM_024447927.1:c.3038-549T>C | XP_024303695.1:n.3038-549T>C | |
| XM_024447928.1:c.3038-549T>C | XP_024303696.1:n.3038-549T>C | |
| XM_024447929.1:c.2966-549T>C | XP_024303697.1:n.2966-549T>C | |
| XM_024447930.1:c.2966-549T>C | XP_024303698.1:n.2966-549T>C | |
| XM_024447931.1:c.2942-549T>C | XP_024303699.1:n.2942-549T>C | |
| XM_024447932.1:c.1421-549T>C | XP_024303700.1:n.1421-549T>C | |
| NM_001278185.2:c.2732-549T>C | NP_001265114.1:n.2732-549T>C | |
| NM_001278186.2:c.2177-549T>C | NP_001265115.1:n.2177-549T>C | |
| NM_015601.4:c.2942-549T>C MANE Select | NP_056416.2:n.2942-549T>C | |
| NM_022079.3:c.2966-549T>C | NP_071362.1:n.2966-549T>C |