Linked Data
ClinVar Variation Id:
835560
ClinVar RCV Id:
RCV001036466
dbSNP Id:
rs568177600
ExAC:
2:29449926 C / T
gnomAD v2:
2-29449926-C-T
gnomAD v3:
2-29227060-C-T
gnomAD v4:
2-29227060-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227060C>T , CM000664.2:g.29227060C>T | GRCh38 |
| NC_000002.11:g.29449926C>T , CM000664.1:g.29449926C>T | GRCh37 |
| NC_000002.10:g.29303430C>T | NCBI36 |
| NG_009445.1:g.699507G>A , LRG_488:g.699507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2929G>A MANE Select | ENSP00000373700.3:p.Gly977Arg | |
| ENST00000431873.6:c.95G>A | ||
| ENST00000389048.7:c.2929G>A | ENSP00000373700.3:p.Gly977Arg | |
| ENST00000618119.4:c.1798G>A | ENSP00000482733.1:p.Gly600Arg | |
| NM_004304.4:c.2929G>A | NP_004295.2:p.Gly977Arg | |
| XM_024452778.1:c.82G>A | XP_024308546.1:p.Gly28Arg | |
| XR_001738688.2:n.3785G>A | ||
| NM_004304.5:c.2929G>A MANE Select | NP_004295.2:p.Gly977Arg |