Linked Data
dbSNP Id:
rs201389673
ExAC:
8:37823810 C / A
gnomAD v2:
8-37823810-C-A
gnomAD v4:
8-37966292-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966292C>A , CM000670.2:g.37966292C>A | GRCh38 |
| NC_000008.10:g.37823810C>A , CM000670.1:g.37823810C>A | GRCh37 |
| NC_000008.9:g.37942967C>A | NCBI36 |
| NG_011936.1:g.5375G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345060.5:c.178G>T MANE Select | ENSP00000343782.3:p.Val60Leu | |
| ENST00000520341.2:n.306G>T | ||
| ENST00000345060.4:c.178G>T | ENSP00000343782.3:p.Val60Leu | |
| ENST00000614635.1:c.178G>T | ENSP00000480325.1:p.Val60Leu | |
| NM_000025.2:c.178G>T | NP_000016.1:p.Val60Leu | |
| NM_000025.3:c.178G>T MANE Select | NP_000016.1:p.Val60Leu |