Linked Data
ClinVar Variation Id:
288159
dbSNP Id:
rs147415811
ExAC:
3:119133099 G / A
gnomAD v2:
3-119133099-G-A
gnomAD v3:
3-119414252-G-A
gnomAD v4:
3-119414252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414252G>A , CM000665.2:g.119414252G>A | GRCh38 |
| NC_000003.11:g.119133099G>A , CM000665.1:g.119133099G>A | GRCh37 |
| NC_000003.10:g.120615789G>A | NCBI36 |
| NG_007665.2:g.124880G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2323G>A MANE Select | ENSP00000264245.4:p.Gly775Ser | |
| ENST00000264245.8:c.2323G>A | ENSP00000264245.4:p.Gly775Ser | |
| NM_020754.3:c.2323G>A | NP_065805.2:p.Gly775Ser | |
| XM_005247671.3:c.2230G>A | XP_005247728.1:p.Gly744Ser | |
| XM_006713714.2:c.2263G>A | XP_006713777.1:p.Gly755Ser | |
| XM_006713714.3:c.2263G>A | XP_006713777.1:p.Gly755Ser | |
| XM_017006955.1:c.1831G>A | XP_016862444.1:p.Gly611Ser | |
| NM_020754.4:c.2323G>A MANE Select | NP_065805.2:p.Gly775Ser |