Linked Data
dbSNP Id:
rs1043515
gnomAD v2:
17-36922196-A-G
gnomAD v3:
17-38765943-A-G
gnomAD v4:
17-38765943-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38765943A>G , CM000679.2:g.38765943A>G | GRCh38 |
| NC_000017.10:g.36922196A>G , CM000679.1:g.36922196A>G | GRCh37 |
| NC_000017.9:g.34175722A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619039.5:c.*3748T>C MANE Select | ENSP00000482548.1:n.*3748T>C | |
| ENST00000619039.4:c.*3748T>C | ENSP00000482548.1:n.*3748T>C | |
| NM_003559.4:c.*3748T>C | NP_003550.1:n.*3748T>C | |
| XM_011525326.1:c.*3748T>C | XP_011523628.1:n.*3748T>C | |
| XM_011525327.1:c.*3748T>C | XP_011523629.1:n.*3748T>C | |
| XM_011525328.1:c.*3748T>C | XP_011523630.1:n.*3748T>C | |
| XM_011525330.1:c.*3748T>C | XP_011523632.1:n.*3748T>C | |
| XM_011525331.1:c.*3748T>C | XP_011523633.1:n.*3748T>C | |
| XM_011525326.3:c.*3748T>C | XP_011523628.1:n.*3748T>C | |
| XM_011525327.2:c.*3748T>C | XP_011523629.1:n.*3748T>C | |
| XM_011525330.2:c.*3748T>C | XP_011523632.1:n.*3748T>C | |
| XM_017025197.1:c.*3748T>C | XP_016880686.1:n.*3748T>C | |
| XM_017025199.1:c.*3748T>C | XP_016880688.1:n.*3748T>C | |
| NM_003559.5:c.*3748T>C MANE Select | NP_003550.1:n.*3748T>C |