Linked Data
dbSNP Id:
rs768307694
ExAC:
2:73800000 A / G
gnomAD v2:
2-73800000-A-G
gnomAD v4:
2-73572873-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572873A>G , CM000664.2:g.73572873A>G | GRCh38 |
| NC_000002.11:g.73800000A>G , CM000664.1:g.73800000A>G | GRCh37 |
| NC_000002.10:g.73653508A>G | NCBI36 |
| NG_011690.1:g.192121A>G , LRG_741:g.192121A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10615A>G | ENSP00000507671.1:p.Arg3539Gly | |
| ENST00000682801.1:c.10615A>G | ENSP00000507862.1:p.Arg3539Gly | |
| ENST00000682859.1:c.10615A>G | ENSP00000508222.1:p.Arg3539Gly | |
| ENST00000683791.1:c.3701A>G | ||
| ENST00000684460.1:c.7896A>G | ||
| ENST00000684548.1:c.10615A>G | ENSP00000507421.1:p.Arg3539Gly | |
| ENST00000684590.1:c.5062A>G | ENSP00000507376.1:p.Arg1688Gly | |
| ENST00000684656.1:c.7941A>G | ||
| ENST00000613296.6:c.10996A>G MANE Select | ENSP00000482968.1:p.Arg3666Gly | |
| ENST00000651057.1:c.1150A>G | ENSP00000498504.1:p.Arg384Gly | |
| ENST00000651434.1:c.2352A>G | ||
| ENST00000651750.1:c.384A>G | ||
| ENST00000652487.1:c.2093A>G | ||
| ENST00000423048.5:c.4487A>G | ENSP00000399833.1:n.4487A>G | |
| ENST00000484298.5:c.10870A>G | ENSP00000478155.1:p.Arg3624Gly | |
| ENST00000613296.4:c.10996A>G | ENSP00000482968.1:p.Arg3666Gly | |
| ENST00000614410.4:c.10996A>G | ENSP00000479094.1:p.Arg3666Gly | |
| ENST00000620466.4:n.4799A>G | ||
| NM_015120.4:c.10999A>G , LRG_741t1:c.10999A>G | NP_055935.4:p.Arg3667Gly | |
| NM_001378454.1:c.10996A>G MANE Select | NP_001365383.1:p.Arg3666Gly |