Linked Data
dbSNP Id:
rs150263896
ExAC:
3:114057857 C / T
gnomAD v2:
3-114057857-C-T
gnomAD v3:
3-114339010-C-T
gnomAD v4:
3-114339010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114339010C>T , CM000665.2:g.114339010C>T | GRCh38 |
| NC_000003.11:g.114057857C>T , CM000665.1:g.114057857C>T | GRCh37 |
| NC_000003.10:g.115540547C>T | NCBI36 |
| NG_052992.1:g.813271G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470311.6:c.2002G>A | ENSP00000420684.2:p.Gly668Arg | |
| ENST00000474710.6:c.2221G>A | ENSP00000419153.1:p.Gly741Arg | |
| ENST00000704358.1:c.2221G>A | ENSP00000515869.1:p.Gly741Arg | |
| ENST00000704361.1:n.2419G>A | ||
| ENST00000357258.8:c.2002G>A | ENSP00000349803.3:p.Gly668Arg | |
| ENST00000675478.1:c.2221G>A MANE Select | ENSP00000501561.1:p.Gly741Arg | |
| ENST00000676079.1:c.2221G>A | ENSP00000502480.1:p.Gly741Arg | |
| ENST00000357258.7:c.2002G>A | ENSP00000349803.3:p.Gly668Arg | |
| ENST00000393785.6:c.2002G>A | ENSP00000377375.2:p.Gly668Arg | |
| ENST00000462705.5:c.2002G>A | ENSP00000420324.1:p.Gly668Arg | |
| ENST00000464560.5:c.2002G>A | ENSP00000417307.1:p.Gly668Arg | |
| ENST00000471418.5:c.2002G>A | ENSP00000419902.1:p.Gly668Arg | |
| ENST00000474710.5:c.2221G>A | ENSP00000419153.1:p.Gly741Arg | |
| ENST00000481632.5:c.2002G>A | ENSP00000418092.1:p.Gly668Arg | |
| NM_001164342.2:c.2221G>A | NP_001157814.1:p.Gly741Arg | |
| NM_001164343.2:c.2002G>A | NP_001157815.1:p.Gly668Arg | |
| NM_001164344.2:c.2002G>A | NP_001157816.1:p.Gly668Arg | |
| NM_001164345.2:c.2002G>A | NP_001157817.1:p.Gly668Arg | |
| NM_001164346.2:c.2002G>A | NP_001157818.1:p.Gly668Arg | |
| NM_001164347.2:c.2002G>A | NP_001157819.1:p.Gly668Arg | |
| NM_015642.5:c.2002G>A | NP_056457.3:p.Gly668Arg | |
| NR_121662.1:n.883G>A | ||
| NM_001348800.1:c.2221G>A | NP_001335729.1:p.Gly741Arg | |
| NM_001348801.1:c.2002G>A | NP_001335730.1:p.Gly668Arg | |
| NM_001348802.1:c.2002G>A | NP_001335731.1:p.Gly668Arg | |
| NM_001348803.1:c.2221G>A | NP_001335732.1:p.Gly741Arg | |
| NM_001348804.1:c.2002G>A | NP_001335733.1:p.Gly668Arg | |
| NM_001348805.1:c.2002G>A | NP_001335734.1:p.Gly668Arg | |
| NM_001164344.3:c.2002G>A | NP_001157816.1:p.Gly668Arg | |
| NM_001164345.3:c.2002G>A | NP_001157817.1:p.Gly668Arg | |
| NM_001348800.3:c.2221G>A MANE Select | NP_001335729.1:p.Gly741Arg | |
| NM_001348801.2:c.2002G>A | NP_001335730.1:p.Gly668Arg | |
| NM_001348802.2:c.2002G>A | NP_001335731.1:p.Gly668Arg | |
| NM_001348803.2:c.2221G>A | NP_001335732.1:p.Gly741Arg | |
| NM_001348804.2:c.2002G>A | NP_001335733.1:p.Gly668Arg | |
| NM_001348805.2:c.2002G>A | NP_001335734.1:p.Gly668Arg | |
| NM_015642.6:c.2002G>A | NP_056457.3:p.Gly668Arg | |
| NR_121662.2:n.886G>A | ||
| NM_001164344.4:c.2002G>A | NP_001157816.1:p.Gly668Arg | |
| NM_001164345.4:c.2002G>A | NP_001157817.1:p.Gly668Arg | |
| NM_001348801.3:c.2002G>A | NP_001335730.1:p.Gly668Arg | |
| NM_001348802.3:c.2002G>A | NP_001335731.1:p.Gly668Arg | |
| NM_001348803.3:c.2221G>A | NP_001335732.1:p.Gly741Arg | |
| NM_001348804.3:c.2002G>A | NP_001335733.1:p.Gly668Arg | |
| NM_001348805.3:c.2002G>A | NP_001335734.1:p.Gly668Arg | |
| NM_001393393.1:c.2221G>A | NP_001380322.1:p.Gly741Arg | |
| NM_001393394.1:c.2221G>A | NP_001380323.1:p.Gly741Arg | |
| NM_001393395.1:c.2002G>A | NP_001380324.1:p.Gly668Arg | |
| NM_001393396.1:c.2002G>A | NP_001380325.1:p.Gly668Arg | |
| NM_015642.7:c.2002G>A | NP_056457.3:p.Gly668Arg | |
| NR_121662.3:n.886G>A |