Linked Data
dbSNP Id:
rs1028830783
gnomAD v2:
3-43762140-C-T
gnomAD v3:
3-43720648-C-T
gnomAD v4:
3-43720648-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43720648C>T , CM000665.2:g.43720648C>T | GRCh38 |
| NC_000003.11:g.43762140C>T , CM000665.1:g.43762140C>T | GRCh37 |
| NC_000003.10:g.43737144C>T | NCBI36 |
| NG_007090.3:g.34766C>T | |
| NG_007090.5:g.34779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454293.2:c.*29+2087C>T | ENSP00000412014.2:n.*29+2087C>T | |
| ENST00000463153.2:c.306+2087C>T | ||
| ENST00000643477.1:c.*2627C>T | ENSP00000496220.1:n.*2627C>T | |
| ENST00000644371.2:c.*2116C>T MANE Select | ENSP00000495778.1:n.*2116C>T | |
| ENST00000649763.1:c.*29+2087C>T | ENSP00000497701.1:n.*29+2087C>T | |
| ENST00000463153.1:n.309+2087C>T | ||
| NM_016006.4:c.*2116C>T | NP_057090.2:n.*2116C>T | |
| XM_011533779.1:c.*2116C>T | XP_011532081.1:n.*2116C>T | |
| XM_011533780.1:c.*2142C>T | XP_011532082.1:n.*2142C>T | |
| XR_940447.1:n.3111C>T | ||
| NM_001355186.1:c.*29+2087C>T | NP_001342115.1:n.*29+2087C>T | |
| NM_001365649.1:c.*2116C>T | NP_001352578.1:n.*2116C>T | |
| NM_001365650.1:c.*2142C>T | NP_001352579.1:n.*2142C>T | |
| NM_016006.5:c.*2116C>T | NP_057090.2:n.*2116C>T | |
| NR_158560.1:n.3177C>T | ||
| NM_001355186.2:c.*29+2087C>T | NP_001342115.1:n.*29+2087C>T | |
| NM_016006.6:c.*2116C>T MANE Select | NP_057090.2:n.*2116C>T |