Linked Data
dbSNP Id:
rs200492383
ExAC:
5:68716337 A / C
gnomAD v2:
5-68716337-A-C
gnomAD v3:
5-69420510-A-C
gnomAD v4:
5-69420510-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69420510A>C , CM000667.2:g.69420510A>C | GRCh38 |
| NC_000005.9:g.68716337A>C , CM000667.1:g.68716337A>C | GRCh37 |
| NC_000005.8:g.68752093A>C | NCBI36 |
| NG_017201.1:g.10399A>C | |
| NG_017201.2:g.10399A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325631.10:c.1125A>C MANE Select | ENSP00000323264.5:p.Arg375Ser | |
| ENST00000413223.3:c.777A>C | ENSP00000398922.2:p.Arg259Ser | |
| ENST00000436532.7:c.777A>C | ENSP00000414776.2:p.Arg259Ser | |
| ENST00000645446.1:c.1125A>C | ENSP00000494616.1:p.Arg375Ser | |
| ENST00000647531.1:c.1125A>C | ENSP00000493858.1:p.Arg375Ser | |
| ENST00000325631.9:c.1125A>C | ENSP00000323264.5:p.Arg375Ser | |
| ENST00000413223.2:c.777A>C | ENSP00000398922.2:p.Arg259Ser | |
| ENST00000436532.6:c.777A>C | ENSP00000414776.2:p.Arg259Ser | |
| ENST00000454295.6:c.1125A>C | ENSP00000396244.2:p.Arg375Ser | |
| ENST00000512803.5:c.1125A>C | ENSP00000423490.1:p.Arg375Ser | |
| NM_001038603.2:c.1125A>C | NP_001033692.2:p.Arg375Ser | |
| NM_001244734.1:c.1125A>C | NP_001231663.1:p.Arg375Ser | |
| XM_005248445.3:c.1125A>C | XP_005248502.1:p.Arg375Ser | |
| XM_005248446.3:c.1125A>C | XP_005248503.1:p.Arg375Ser | |
| XM_005248447.3:c.1125A>C | XP_005248504.1:p.Arg375Ser | |
| XM_005248445.4:c.1125A>C | XP_005248502.1:p.Arg375Ser | |
| XM_005248446.4:c.1125A>C | XP_005248503.1:p.Arg375Ser | |
| XM_005248447.4:c.1125A>C | XP_005248504.1:p.Arg375Ser | |
| NM_001038603.3:c.1125A>C MANE Select | NP_001033692.2:p.Arg375Ser | |
| NM_001244734.2:c.1125A>C | NP_001231663.1:p.Arg375Ser |