Linked Data
ClinVar Variation Id:
2003610
ClinVar RCV Id:
RCV002811309
dbSNP Id:
rs1285648883
gnomAD v2:
3-119120802-G-A
gnomAD v4:
3-119401955-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119401955G>A , CM000665.2:g.119401955G>A | GRCh38 |
| NC_000003.11:g.119120802G>A , CM000665.1:g.119120802G>A | GRCh37 |
| NC_000003.10:g.120603492G>A | NCBI36 |
| NG_007665.2:g.112583G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1203G>A MANE Select | ENSP00000264245.4:p.Glu401= | |
| ENST00000264245.8:c.1203G>A | ENSP00000264245.4:p.Glu401= | |
| NM_020754.3:c.1203G>A | NP_065805.2:p.Glu401= | |
| XM_005247671.3:c.1110G>A | XP_005247728.1:p.Glu370= | |
| XM_006713714.2:c.1143G>A | XP_006713777.1:p.Glu381= | |
| XM_006713714.3:c.1143G>A | XP_006713777.1:p.Glu381= | |
| XM_017006955.1:c.711G>A | XP_016862444.1:p.Glu237= | |
| NM_020754.4:c.1203G>A MANE Select | NP_065805.2:p.Glu401= |