Linked Data
ClinVar Variation Id:
1666226
ClinVar RCV Id:
RCV002186213
dbSNP Id:
rs1051114079
gnomAD v2:
8-48765315-G-A
gnomAD v4:
8-47852754-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47852754G>A , CM000670.2:g.47852754G>A | GRCh38 |
| NC_000008.10:g.48765315G>A , CM000670.1:g.48765315G>A | GRCh37 |
| NC_000008.9:g.48927868G>A | NCBI36 |
| NG_023435.1:g.112430C>T , LRG_162:g.112430C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314191.7:c.6924C>T MANE Select | ENSP00000313420.3:p.Ser2308= | |
| ENST00000314191.6:c.6924C>T | ENSP00000313420.3:p.Ser2308= | |
| ENST00000338368.7:c.6924C>T | ENSP00000345182.4:p.Ser2308= | |
| NM_001081640.1:c.6924C>T | NP_001075109.1:p.Ser2308= | |
| NM_006904.6:c.6924C>T , LRG_162t1:c.6924C>T | NP_008835.5:p.Ser2308= | |
| XM_011517567.1:c.6924C>T | XP_011515869.1:p.Ser2308= | |
| XM_011517568.1:c.6924C>T | XP_011515870.1:p.Ser2308= | |
| NM_001081640.2:c.6924C>T | NP_001075109.1:p.Ser2308= | |
| NM_006904.7:c.6924C>T MANE Select | NP_008835.5:p.Ser2308= |