Linked Data
dbSNP Id:
rs778301791
ExAC:
1:17720445 A / T
gnomAD v2:
1-17720445-A-T
gnomAD v4:
1-17393949-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17393949A>T , CM000663.2:g.17393949A>T | GRCh38 |
| NC_000001.10:g.17720445A>T , CM000663.1:g.17720445A>T | GRCh37 |
| NC_000001.9:g.17593032A>T | NCBI36 |
| NG_032943.1:g.26704A>T | |
| NG_032943.2:g.26704A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.1075-26A>T MANE Select | ENSP00000483125.1:n.1075-26A>T | |
| NM_207421.4:c.1075-26A>T MANE Select | NP_997304.3:n.1075-26A>T |