Linked Data
dbSNP Id:
rs771270725
ExAC:
6:32609869 G / T
gnomAD v3:
6-32642092-G-T
gnomAD v4:
6-32642092-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32642092G>T , CM000668.2:g.32642092G>T | GRCh38 |
| NC_000006.11:g.32609869G>T , CM000668.1:g.32609869G>T | GRCh37 |
| NC_000006.10:g.32717847G>T | NCBI36 |
| NG_032876.1:g.9687G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343139.11:c.452G>T MANE Select | ENSP00000339398.5:p.Gly151Val | |
| ENST00000343139.9:c.452G>T | ENSP00000339398.5:p.Gly151Val | |
| ENST00000374949.2:c.452G>T | ENSP00000364087.2:p.Gly151Val | |
| ENST00000395363.5:c.452G>T | ENSP00000378767.1:p.Gly151Val | |
| ENST00000460633.1:n.480G>T | ||
| ENST00000482745.5:c.*1284G>T | ENSP00000436546.1:n.*1284G>T | |
| ENST00000496318.5:c.452G>T | ENSP00000437302.1:p.Gly151Val | |
| NM_002122.3:c.452G>T | NP_002113.2:p.Gly151Val | |
| XM_006715079.2:c.452G>T | XP_006715142.1:p.Gly151Val | |
| XM_006715079.4:c.452G>T | XP_006715142.1:p.Gly151Val | |
| XR_001744085.1:n.86+496C>A | ||
| NM_002122.5:c.452G>T MANE Select | NP_002113.2:p.Gly151Val |