Linked Data
ClinVar Variation Id:
2029088
ClinVar RCV Id:
RCV002876467
dbSNP Id:
rs1323438917
gnomAD v2:
8-97157227-C-T
gnomAD v3:
8-96144999-C-T
gnomAD v4:
8-96144999-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144999C>T , CM000670.2:g.96144999C>T | GRCh38 |
| NC_000008.10:g.97157227C>T , CM000670.1:g.97157227C>T | GRCh37 |
| NC_000008.9:g.97226403C>T | NCBI36 |
| NG_008981.1:g.20794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.932G>A MANE Select | ENSP00000287020.4:p.Gly311Glu | |
| ENST00000287020.6:c.932G>A | ENSP00000287020.4:p.Gly311Glu | |
| ENST00000620978.1:c.793+77G>A | ENSP00000480170.1:n.793+77G>A | |
| ENST00000621429.1:c.874+58G>A | ENSP00000483711.1:n.874+58G>A | |
| NM_001001557.2:c.932G>A | NP_001001557.1:p.Gly311Glu | |
| XM_011517030.1:c.533G>A | XP_011515332.1:p.Gly178Glu | |
| NM_001001557.3:c.932G>A | NP_001001557.1:p.Gly311Glu | |
| NM_001001557.4:c.932G>A MANE Select | NP_001001557.1:p.Gly311Glu |