Linked Data
dbSNP Id:
rs777165649
ExAC:
3:119132875 G / A
gnomAD v2:
3-119132875-G-A
gnomAD v4:
3-119414028-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414028G>A , CM000665.2:g.119414028G>A | GRCh38 |
| NC_000003.11:g.119132875G>A , CM000665.1:g.119132875G>A | GRCh37 |
| NC_000003.10:g.120615565G>A | NCBI36 |
| NG_007665.2:g.124656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2099G>A MANE Select | ENSP00000264245.4:p.Gly700Glu | |
| ENST00000264245.8:c.2099G>A | ENSP00000264245.4:p.Gly700Glu | |
| NM_020754.3:c.2099G>A | NP_065805.2:p.Gly700Glu | |
| XM_005247671.3:c.2006G>A | XP_005247728.1:p.Gly669Glu | |
| XM_006713714.2:c.2039G>A | XP_006713777.1:p.Gly680Glu | |
| XM_006713714.3:c.2039G>A | XP_006713777.1:p.Gly680Glu | |
| XM_017006955.1:c.1607G>A | XP_016862444.1:p.Gly536Glu | |
| NM_020754.4:c.2099G>A MANE Select | NP_065805.2:p.Gly700Glu |