Linked Data
ClinVar Variation Id:
1733133
dbSNP Id:
rs775693375
gnomAD v3:
2-29220748-C-G
gnomAD v4:
2-29220748-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220748C>G , CM000664.2:g.29220748C>G | GRCh38 |
| NC_000002.11:g.29443614C>G , CM000664.1:g.29443614C>G | GRCh37 |
| NC_000002.10:g.29297118C>G | NCBI36 |
| NG_009445.1:g.705819G>C , LRG_488:g.705819G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3603G>C MANE Select | ENSP00000373700.3:p.Gly1201= | |
| ENST00000431873.6:c.830G>C | ||
| ENST00000638605.1:n.480G>C | ||
| ENST00000642122.1:c.399G>C | ENSP00000493203.1:p.Gly133= | |
| ENST00000389048.7:c.3603G>C | ENSP00000373700.3:p.Gly1201= | |
| ENST00000431873.5:c.483G>C | ENSP00000414027.2:p.Gly161= | |
| ENST00000618119.4:c.2472G>C | ENSP00000482733.1:p.Gly824= | |
| NM_004304.4:c.3603G>C | NP_004295.2:p.Gly1201= | |
| NM_001353765.1:c.399G>C | NP_001340694.1:p.Gly133= | |
| XM_024452778.1:c.756G>C | XP_024308546.1:p.Gly252= | |
| XM_024452779.1:c.399G>C | XP_024308547.1:p.Gly133= | |
| NM_004304.5:c.3603G>C MANE Select | NP_004295.2:p.Gly1201= | |
| NM_001353765.2:c.399G>C | NP_001340694.1:p.Gly133= |