Linked Data
ClinVar Variation Id:
562086
dbSNP Id:
rs762876554
ExAC:
6:35782362 G / T
gnomAD v2:
6-35782362-G-T
gnomAD v4:
6-35814585-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35814585G>T , CM000668.2:g.35814585G>T | GRCh38 |
| NC_000006.11:g.35782362G>T , CM000668.1:g.35782362G>T | GRCh37 |
| NC_000006.10:g.35890340G>T | NCBI36 |
| NG_012184.1:g.14292G>T | |
| NG_012184.2:g.14292G>T | |
| NG_012184.3:g.22380G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.452G>T MANE Select | ENSP00000353346.1:p.Gly151Val | |
| ENST00000496656.2:n.231G>T | ||
| ENST00000651132.1:c.452G>T | ENSP00000498322.1:p.Gly151Val | |
| ENST00000651676.1:c.452G>T | ENSP00000498699.1:p.Gly151Val | |
| ENST00000651994.1:c.*70-4852G>T | ENSP00000498310.1:n.*70-4852G>T | |
| ENST00000652718.1:c.284G>T | ENSP00000498866.1:p.Gly95Val | |
| ENST00000360215.2:c.452G>T | ENSP00000353346.1:p.Gly151Val | |
| ENST00000496656.1:n.231G>T | ||
| NM_182548.3:c.452G>T | NP_872354.1:p.Gly151Val | |
| XM_011514403.1:c.452G>T | XP_011512705.1:p.Gly151Val | |
| NM_182548.4:c.452G>T MANE Select | NP_872354.1:p.Gly151Val |