Linked Data
ClinVar Variation Id:
458755
dbSNP Id:
rs758659538
ExAC:
5:127680140 C / T
gnomAD v2:
5-127680140-C-T
gnomAD v4:
5-128344448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344448C>T , CM000667.2:g.128344448C>T | GRCh38 |
| NC_000005.9:g.127680140C>T , CM000667.1:g.127680140C>T | GRCh37 |
| NC_000005.8:g.127708039C>T | NCBI36 |
| NG_008750.1:g.198596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.3280G>A MANE Select | ENSP00000262464.4:p.Gly1094Arg | |
| ENST00000262464.8:c.3280G>A | ENSP00000262464.4:p.Gly1094Arg | |
| ENST00000508053.5:c.3280G>A | ENSP00000424571.1:p.Gly1094Arg | |
| ENST00000508989.5:c.3181G>A | ENSP00000425596.1:p.Gly1061Arg | |
| ENST00000619499.4:c.3277G>A | ENSP00000482132.1:p.Gly1093Arg | |
| NM_001999.3:c.3280G>A | NP_001990.2:p.Gly1094Arg | |
| XM_017009228.2:c.3127G>A | XP_016864717.1:p.Gly1043Arg | |
| NM_001999.4:c.3280G>A MANE Select | NP_001990.2:p.Gly1094Arg |