Linked Data
ClinVar Variation Id:
392892
dbSNP Id:
rs3795850
gnomAD v3:
2-29222592-G-A
gnomAD v4:
2-29222592-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29222592G>A , CM000664.2:g.29222592G>A | GRCh38 |
| NC_000002.11:g.29445458G>A , CM000664.1:g.29445458G>A | GRCh37 |
| NC_000002.10:g.29298962G>A | NCBI36 |
| NG_009445.1:g.703975C>T , LRG_488:g.703975C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3375C>T MANE Select | ENSP00000373700.3:p.Gly1125= | |
| ENST00000431873.6:c.602C>T | ||
| ENST00000638605.1:n.252C>T | ||
| ENST00000642122.1:c.171C>T | ENSP00000493203.1:p.Gly57= | |
| ENST00000389048.7:c.3375C>T | ENSP00000373700.3:p.Gly1125= | |
| ENST00000431873.5:c.255C>T | ENSP00000414027.2:p.Gly85= | |
| ENST00000453137.1:c.69C>T | ENSP00000387488.1:p.Gly23= | |
| ENST00000618119.4:c.2244C>T | ENSP00000482733.1:p.Gly748= | |
| NM_004304.4:c.3375C>T | NP_004295.2:p.Gly1125= | |
| NM_001353765.1:c.171C>T | NP_001340694.1:p.Gly57= | |
| XM_024452778.1:c.528C>T | XP_024308546.1:p.Gly176= | |
| XM_024452779.1:c.171C>T | XP_024308547.1:p.Gly57= | |
| NM_004304.5:c.3375C>T MANE Select | NP_004295.2:p.Gly1125= | |
| NM_001353765.2:c.171C>T | NP_001340694.1:p.Gly57= |