Linked Data
ClinVar Variation Id:
538182
ClinVar RCV Id:
RCV000647384
dbSNP Id:
rs1265006535
gnomAD v2:
2-29917846-C-T
gnomAD v4:
2-29694980-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29694980C>T , CM000664.2:g.29694980C>T | GRCh38 |
| NC_000002.11:g.29917846C>T , CM000664.1:g.29917846C>T | GRCh37 |
| NC_000002.10:g.29771350C>T | NCBI36 |
| NG_009445.1:g.231587G>A , LRG_488:g.231587G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.822G>A MANE Select | ENSP00000373700.3:p.Leu274= | |
| ENST00000389048.7:c.822G>A | ENSP00000373700.3:p.Leu274= | |
| ENST00000618119.4:c.-310G>A | ENSP00000482733.1:n.-310G>A | |
| NM_004304.4:c.822G>A | NP_004295.2:p.Leu274= | |
| XR_001738688.2:n.1752G>A | ||
| NM_004304.5:c.822G>A MANE Select | NP_004295.2:p.Leu274= |