Linked Data
dbSNP Id:
rs547363069
gnomAD v2:
6-31129611-G-T
gnomAD v3:
6-31161834-G-T
gnomAD v4:
6-31161834-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31161834G>T , CM000668.2:g.31161834G>T | GRCh38 |
| NC_000006.11:g.31129611G>T , CM000668.1:g.31129611G>T | GRCh37 |
| NC_000006.10:g.31237590G>T | NCBI36 |
| NG_054878.1:g.1405C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542218.2:c.626G>T | ENSP00000439397.2:p.Gly209Val | |
| ENST00000706778.1:c.626G>T | ENSP00000516543.1:p.Gly209Val | |
| ENST00000706779.1:c.626G>T | ENSP00000516544.1:p.Gly209Val | |
| ENST00000706780.1:c.626G>T | ENSP00000516545.1:p.Gly209Val | |
| ENST00000706781.1:c.626G>T | ENSP00000516546.1:p.Gly209Val | |
| ENST00000706782.1:c.626G>T | ENSP00000516547.1:p.Gly209Val | |
| ENST00000706783.1:c.457G>T | ENSP00000516548.1:p.Gly153Trp | |
| ENST00000706785.1:c.411G>T | ENSP00000516549.1:p.Trp137Cys | |
| ENST00000706786.1:c.457G>T | ENSP00000516550.1:p.Gly153Trp | |
| ENST00000706787.1:c.626G>T | ENSP00000516551.1:p.Gly209Val | |
| ENST00000706788.1:n.577G>T | ||
| ENST00000376257.8:c.626G>T MANE Select | ENSP00000365433.3:p.Gly209Val | |
| ENST00000376255.4:c.626G>T | ENSP00000365431.4:p.Gly209Val | |
| ENST00000376257.7:c.626G>T | ENSP00000365433.3:p.Gly209Val | |
| ENST00000496421.1:n.178G>T | ||
| ENST00000542218.1:c.386G>T | ENSP00000439397.1:p.Gly129Val | |
| NM_001077511.1:c.626G>T | NP_001070979.1:p.Gly209Val | |
| NM_007109.2:c.626G>T | NP_009040.2:p.Gly209Val | |
| XM_005249334.2:c.626G>T | XP_005249391.1:p.Gly209Val | |
| XM_011514829.1:c.626G>T | XP_011513131.1:p.Gly209Val | |
| NM_001318908.1:c.626G>T | NP_001305837.1:p.Gly209Val | |
| NM_007109.3:c.626G>T MANE Select | NP_009040.2:p.Gly209Val | |
| NM_001077511.2:c.626G>T | NP_001070979.1:p.Gly209Val | |
| NM_001318908.2:c.626G>T | NP_001305837.1:p.Gly209Val |