Linked Data
ClinVar Variation Id:
2584664
ClinVar RCV Id:
RCV003336632
dbSNP Id:
rs138572161
gnomAD v2:
16-89245941-G-T
gnomAD v4:
16-89179533-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179533G>T , CM000678.2:g.89179533G>T | GRCh38 |
| NC_000016.9:g.89245941G>T , CM000678.1:g.89245941G>T | GRCh37 |
| NC_000016.8:g.87773442G>T | NCBI36 |
| NG_012055.1:g.12779G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.160G>T MANE Select | ENSP00000289746.2:p.Val54Leu | |
| ENST00000289746.2:c.160G>T | ENSP00000289746.2:p.Val54Leu | |
| ENST00000521087.5:n.225G>T | ||
| ENST00000524089.1:n.225G>T | ||
| NM_004933.2:c.160G>T | NP_004924.1:p.Val54Leu | |
| XM_011522806.1:c.160G>T | XP_011521108.1:p.Val54Leu | |
| NM_004933.3:c.160G>T MANE Select | NP_004924.1:p.Val54Leu |