Linked Data
dbSNP Id:
rs774393305
ExAC:
1:173878749 T / C
gnomAD v2:
1-173878749-T-C
gnomAD v4:
1-173909611-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909611T>C , CM000663.2:g.173909611T>C | GRCh38 |
| NC_000001.10:g.173878749T>C , CM000663.1:g.173878749T>C | GRCh37 |
| NC_000001.9:g.172145372T>C | NCBI36 |
| NG_012462.1:g.12768A>G , LRG_577:g.12768A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1094A>G MANE Select | ENSP00000356671.3:p.Glu365Gly | |
| ENST00000367698.3:c.1094A>G | ENSP00000356671.3:p.Glu365Gly | |
| ENST00000617423.4:c.560-2118A>G | ENSP00000478688.1:n.560-2118A>G | |
| NM_000488.3:c.1094A>G , LRG_577t1:c.1094A>G | NP_000479.1:p.Glu365Gly | |
| XM_005245198.2:c.950A>G | XP_005245255.1:p.Glu317Gly | |
| NM_001365052.1:c.950A>G | NP_001351981.1:p.Glu317Gly | |
| NM_000488.4:c.1094A>G MANE Select | NP_000479.1:p.Glu365Gly | |
| NM_001365052.2:c.950A>G | NP_001351981.1:p.Glu317Gly | |
| NM_001386302.1:c.1217A>G | NP_001373231.1:p.Glu406Gly | |
| NM_001386303.1:c.1175A>G | NP_001373232.1:p.Glu392Gly | |
| NM_001386304.1:c.1073A>G | NP_001373233.1:p.Glu358Gly | |
| NM_001386305.1:c.1037A>G | NP_001373234.1:p.Glu346Gly | |
| NM_001386306.1:c.878A>G | NP_001373235.1:p.Glu293Gly |