Linked Data
dbSNP Id:
rs1016551404
gnomAD v2:
1-207627711-C-T
gnomAD v3:
1-207454366-C-T
gnomAD v4:
1-207454366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207454366C>T , CM000663.2:g.207454366C>T | GRCh38 |
| NC_000001.10:g.207627711C>T , CM000663.1:g.207627711C>T | GRCh37 |
| NC_000001.9:g.205694334C>T | NCBI36 |
| NG_013006.1:g.5067C>T , LRG_348:g.5067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699620.1:c.-495C>T | ENSP00000514480.1:n.-495C>T | |
| ENST00000699640.1:c.-385+1271C>T | ENSP00000514493.1:n.-385+1271C>T | |
| ENST00000367057.8:c.-53C>T MANE Select | ENSP00000356024.3:n.-53C>T | |
| ENST00000367057.7:c.-53C>T | ENSP00000356024.3:n.-53C>T | |
| ENST00000367058.7:c.-53C>T | ENSP00000356025.3:n.-53C>T | |
| ENST00000367059.3:c.-53C>T | ENSP00000356026.3:n.-53C>T | |
| NM_001006658.2:c.-53C>T , LRG_348t1:c.-53C>T | NP_001006659.1:n.-53C>T | |
| NM_001877.4:c.-53C>T | NP_001868.2:n.-53C>T | |
| NM_001006658.3:c.-53C>T MANE Select | NP_001006659.1:n.-53C>T | |
| NM_001877.5:c.-53C>T | NP_001868.2:n.-53C>T |