Linked Data
dbSNP Id:
rs542826677
ExAC:
5:145719109 A / T
gnomAD v2:
5-145719109-A-T
gnomAD v3:
5-146339546-A-T
gnomAD v4:
5-146339546-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339546A>T , CM000667.2:g.146339546A>T | GRCh38 |
| NC_000005.9:g.145719109A>T , CM000667.1:g.145719109A>T | GRCh37 |
| NC_000005.8:g.145699302A>T | NCBI36 |
| NG_011885.1:g.5523A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.121-2A>T MANE Select | ENSP00000495718.1:n.121-2A>T | |
| ENST00000230732.4:c.121-2A>T | ENSP00000230732.4:n.121-2A>T | |
| NM_002700.2:c.121-2A>T | NP_002691.1:n.121-2A>T | |
| NM_002700.3:c.121-2A>T MANE Select | NP_002691.1:n.121-2A>T |