Linked Data
ClinVar Variation Id:
506010
ClinVar RCV Id:
RCV000601975
dbSNP Id:
rs1201327476
gnomAD v2:
6-2949198-C-A
gnomAD v4:
6-2948964-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.2948964C>A , CM000668.2:g.2948964C>A | GRCh38 |
| NC_000006.11:g.2949198C>A , CM000668.1:g.2949198C>A | GRCh37 |
| NC_000006.10:g.2894197C>A | NCBI36 |
| NG_027692.1:g.28202G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380520.6:c.679G>T | ENSP00000369891.1:p.Glu227Ter | |
| ENST00000380539.7:c.679G>T MANE Select | ENSP00000369912.2:p.Glu227Ter | |
| ENST00000612421.3:c.736G>T | ENSP00000484343.1:p.Glu246Ter | |
| ENST00000616722.4:c.691G>T | ENSP00000481398.1:p.Glu231Ter | |
| ENST00000642543.1:c.547G>T | ENSP00000494161.1:p.Glu183Ter | |
| ENST00000643098.1:c.679G>T | ENSP00000493936.1:p.Glu227Ter | |
| ENST00000643314.1:n.2674G>T | ||
| ENST00000644178.1:c.679G>T | ENSP00000496073.1:p.Glu227Ter | |
| ENST00000644388.1:c.679G>T | ENSP00000494650.1:p.Glu227Ter | |
| ENST00000644693.1:c.*552G>T | ENSP00000495361.1:n.*552G>T | |
| ENST00000644697.1:n.1540G>T | ||
| ENST00000645580.1:c.691G>T | ENSP00000495362.1:p.Glu231Ter | |
| ENST00000646722.1:n.1598G>T | ||
| ENST00000647157.1:n.3013G>T | ||
| ENST00000649845.1:c.*793G>T | ENSP00000497149.1:n.*793G>T | |
| ENST00000335686.9:c.679G>T | ENSP00000338358.5:p.Glu227Ter | |
| ENST00000380520.5:c.679G>T | ENSP00000369891.1:p.Glu227Ter | |
| ENST00000380524.5:c.679G>T | ENSP00000369896.1:p.Glu227Ter | |
| ENST00000380529.5:c.679G>T | ENSP00000369901.1:p.Glu227Ter | |
| ENST00000380539.5:c.679G>T | ENSP00000369912.1:p.Glu227Ter | |
| ENST00000380546.7:c.679G>T | ENSP00000369919.3:p.Glu227Ter | |
| ENST00000612421.2:c.736G>T | ENSP00000484343.1:p.Glu246Ter | |
| ENST00000616722.3:c.691G>T | ENSP00000481398.1:p.Glu231Ter | |
| NM_001195291.2:c.691G>T | NP_001182220.2:p.Glu231Ter | |
| NM_001271822.1:c.721G>T | NP_001258751.1:p.Glu241Ter | |
| NM_001271823.1:c.736G>T | NP_001258752.1:p.Glu246Ter | |
| NM_001271824.1:c.679G>T | NP_001258753.1:p.Glu227Ter | |
| NM_001271825.1:c.679G>T | NP_001258754.1:p.Glu227Ter | |
| NM_001297699.1:c.679G>T | NP_001284628.1:p.Glu227Ter | |
| NM_001297700.1:c.679G>T | NP_001284629.1:p.Glu227Ter | |
| NM_004568.5:c.679G>T | NP_004559.4:p.Glu227Ter | |
| XM_011514672.1:c.913G>T | XP_011512974.1:p.Glu305Ter | |
| XM_011514673.1:c.679G>T | XP_011512975.1:p.Glu227Ter | |
| XM_011514674.1:c.679G>T | XP_011512976.1:p.Glu227Ter | |
| XM_011514675.1:c.547G>T | XP_011512977.1:p.Glu183Ter | |
| XM_011514676.1:c.547G>T | XP_011512978.1:p.Glu183Ter | |
| XM_011514674.2:c.679G>T | XP_011512976.1:p.Glu227Ter | |
| XM_011514676.2:c.547G>T | XP_011512978.1:p.Glu183Ter | |
| XM_017010940.1:c.691G>T | XP_016866429.1:p.Glu231Ter | |
| XM_017010941.1:c.547G>T | XP_016866430.1:p.Glu183Ter | |
| XM_024446462.1:c.691G>T | XP_024302230.1:p.Glu231Ter | |
| XM_024446463.1:c.691G>T | XP_024302231.1:p.Glu231Ter | |
| XM_024446464.1:c.679G>T | XP_024302232.1:p.Glu227Ter | |
| XM_024446465.1:c.547G>T | XP_024302233.1:p.Glu183Ter | |
| NM_001195291.3:c.691G>T | NP_001182220.2:p.Glu231Ter | |
| NM_001271822.2:c.721G>T | NP_001258751.1:p.Glu241Ter | |
| NM_001271823.2:c.736G>T | NP_001258752.1:p.Glu246Ter | |
| NM_001271824.2:c.679G>T | NP_001258753.1:p.Glu227Ter | |
| NM_001271825.2:c.679G>T | NP_001258754.1:p.Glu227Ter | |
| NM_001297699.2:c.679G>T | NP_001284628.1:p.Glu227Ter | |
| NM_001297700.2:c.679G>T | NP_001284629.1:p.Glu227Ter | |
| NM_001374515.1:c.691G>T | NP_001361444.1:p.Glu231Ter | |
| NM_001374516.1:c.679G>T | NP_001361445.1:p.Glu227Ter | |
| NM_001374517.1:c.547G>T | NP_001361446.1:p.Glu183Ter | |
| NM_004568.6:c.679G>T MANE Select | NP_004559.4:p.Glu227Ter | |
| NR_164657.1:n.728G>T |