Linked Data
dbSNP Id:
rs2270861
ExAC:
12:101736381 A / G
gnomAD v2:
12-101736381-A-G
gnomAD v3:
12-101342603-A-G
gnomAD v4:
12-101342603-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101342603A>G , CM000674.2:g.101342603A>G | GRCh38 |
| NC_000012.11:g.101736381A>G , CM000674.1:g.101736381A>G | GRCh37 |
| NC_000012.10:g.100260512A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261637.5:c.4245+14A>G MANE Select | ENSP00000261637.4:n.4245+14A>G | |
| ENST00000261637.4:c.4245+14A>G | ENSP00000261637.4:n.4245+14A>G | |
| NM_014503.2:c.4245+14A>G | NP_055318.2:n.4245+14A>G | |
| XM_006719343.2:c.4245+14A>G | XP_006719406.1:n.4245+14A>G | |
| NM_014503.3:c.4245+14A>G MANE Select | NP_055318.2:n.4245+14A>G |