Linked Data
ClinVar Variation Id:
1733131
dbSNP Id:
rs775693375
ExAC:
2:29443614 C / T
gnomAD v2:
2-29443614-C-T
gnomAD v4:
2-29220748-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220748C>T , CM000664.2:g.29220748C>T | GRCh38 |
| NC_000002.11:g.29443614C>T , CM000664.1:g.29443614C>T | GRCh37 |
| NC_000002.10:g.29297118C>T | NCBI36 |
| NG_009445.1:g.705819G>A , LRG_488:g.705819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3603G>A MANE Select | ENSP00000373700.3:p.Gly1201= | |
| ENST00000431873.6:c.830G>A | ||
| ENST00000638605.1:n.480G>A | ||
| ENST00000642122.1:c.399G>A | ENSP00000493203.1:p.Gly133= | |
| ENST00000389048.7:c.3603G>A | ENSP00000373700.3:p.Gly1201= | |
| ENST00000431873.5:c.483G>A | ENSP00000414027.2:p.Gly161= | |
| ENST00000618119.4:c.2472G>A | ENSP00000482733.1:p.Gly824= | |
| NM_004304.4:c.3603G>A | NP_004295.2:p.Gly1201= | |
| NM_001353765.1:c.399G>A | NP_001340694.1:p.Gly133= | |
| XM_024452778.1:c.756G>A | XP_024308546.1:p.Gly252= | |
| XM_024452779.1:c.399G>A | XP_024308547.1:p.Gly133= | |
| NM_004304.5:c.3603G>A MANE Select | NP_004295.2:p.Gly1201= | |
| NM_001353765.2:c.399G>A | NP_001340694.1:p.Gly133= |