Linked Data
dbSNP Id:
rs34575154
ExAC:
5:140166953 A / G
gnomAD v2:
5-140166953-A-G
gnomAD v3:
5-140787368-A-G
gnomAD v4:
5-140787368-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140787368A>G , CM000667.2:g.140787368A>G | GRCh38 |
| NC_000005.9:g.140166953A>G , CM000667.1:g.140166953A>G | GRCh37 |
| NC_000005.8:g.140147137A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504120.4:c.1078A>G MANE Select | ENSP00000420840.3:p.Arg360Gly | |
| ENST00000378133.4:c.1078A>G | ENSP00000367373.3:p.Arg360Gly | |
| ENST00000394633.7:c.1078A>G | ENSP00000378129.3:p.Arg360Gly | |
| ENST00000504120.3:c.1078A>G | ENSP00000420840.2:p.Arg360Gly | |
| NM_018900.3:c.1078A>G | NP_061723.1:p.Arg360Gly | |
| NM_031410.2:c.1078A>G | NP_113598.1:p.Arg360Gly | |
| NM_031411.2:c.1078A>G | NP_113599.1:p.Arg360Gly | |
| NM_018900.4:c.1078A>G MANE Select | NP_061723.1:p.Arg360Gly | |
| NM_031411.3:c.1078A>G | NP_113599.1:p.Arg360Gly |