Linked Data
dbSNP Id:
rs374452484
ExAC:
2:189873750 G / A
gnomAD v2:
2-189873750-G-A
gnomAD v4:
2-189009024-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189009024G>A , CM000664.2:g.189009024G>A | GRCh38 |
| NC_000002.11:g.189873750G>A , CM000664.1:g.189873750G>A | GRCh37 |
| NC_000002.10:g.189581995G>A | NCBI36 |
| NG_007404.1:g.39652G>A , LRG_3:g.39652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3527G>A | ENSP00000415346.2:p.Gly1176Glu | |
| ENST00000304636.9:c.3626G>A MANE Select | ENSP00000304408.4:p.Gly1209Glu | |
| ENST00000304636.7:c.3626G>A | ENSP00000304408.3:p.Gly1209Glu | |
| ENST00000317840.9:c.2717G>A | ENSP00000315243.6:p.Gly906Glu | |
| ENST00000487010.1:n.723G>A | ||
| NM_000090.3:c.3626G>A , LRG_3t1:c.3626G>A | NP_000081.1:p.Gly1209Glu | |
| NM_000090.4:c.3626G>A MANE Select | NP_000081.2:p.Gly1209Glu |