Linked Data
dbSNP Id:
rs1316840485
gnomAD v2:
17-7918913-A-T
gnomAD v3:
17-8015595-A-T
gnomAD v4:
17-8015595-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015595A>T , CM000679.2:g.8015595A>T | GRCh38 |
| NC_000017.10:g.7918913A>T , CM000679.1:g.7918913A>T | GRCh37 |
| NC_000017.9:g.7859638A>T | NCBI36 |
| NG_009092.1:g.17926A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2944+93A>T MANE Select | ENSP00000254854.4:n.2944+93A>T | |
| ENST00000254854.4:c.2944+93A>T | ENSP00000254854.4:n.2944+93A>T | |
| NM_000180.3:c.2944+93A>T | NP_000171.1:n.2944+93A>T | |
| XM_011523816.1:c.2944+93A>T | XP_011522118.1:n.2944+93A>T | |
| NM_000180.4:c.2944+93A>T MANE Select | NP_000171.1:n.2944+93A>T |