Linked Data
dbSNP Id:
rs757099264
ExAC:
20:44639609 A / T
gnomAD v2:
20-44639609-A-T
gnomAD v4:
20-46010970-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010970A>T , CM000682.2:g.46010970A>T | GRCh38 |
| NC_000020.10:g.44639609A>T , CM000682.1:g.44639609A>T | GRCh37 |
| NC_000020.9:g.44073016A>T | NCBI36 |
| NG_011468.1:g.7063A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.569A>T MANE Select | ENSP00000361405.3:p.His190Leu | |
| NM_004994.2:c.569A>T | NP_004985.2:p.His190Leu | |
| NM_004994.3:c.569A>T MANE Select | NP_004985.2:p.His190Leu |