Linked Data
ClinVar Variation Id:
3128747
ClinVar RCV Id:
RCV004422631
dbSNP Id:
rs375062249
gnomAD v4:
3-119413988-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119413988G>C , CM000665.2:g.119413988G>C | GRCh38 |
| NC_000003.11:g.119132835G>C , CM000665.1:g.119132835G>C | GRCh37 |
| NC_000003.10:g.120615525G>C | NCBI36 |
| NG_007665.2:g.124616G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2059G>C MANE Select | ENSP00000264245.4:p.Glu687Gln | |
| ENST00000264245.8:c.2059G>C | ENSP00000264245.4:p.Glu687Gln | |
| NM_020754.3:c.2059G>C | NP_065805.2:p.Glu687Gln | |
| XM_005247671.3:c.1966G>C | XP_005247728.1:p.Glu656Gln | |
| XM_006713714.2:c.1999G>C | XP_006713777.1:p.Glu667Gln | |
| XM_006713714.3:c.1999G>C | XP_006713777.1:p.Glu667Gln | |
| XM_017006955.1:c.1567G>C | XP_016862444.1:p.Glu523Gln | |
| NM_020754.4:c.2059G>C MANE Select | NP_065805.2:p.Glu687Gln |