Linked Data
ClinVar Variation Id:
1797622
ClinVar RCV Id:
RCV002439872
dbSNP Id:
rs1664022802
gnomAD v4:
2-29227074-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227074A>G , CM000664.2:g.29227074A>G | GRCh38 |
| NC_000002.11:g.29449940A>G , CM000664.1:g.29449940A>G | GRCh37 |
| NC_000002.10:g.29303444A>G | NCBI36 |
| NG_009445.1:g.699493T>C , LRG_488:g.699493T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2915T>C MANE Select | ENSP00000373700.3:p.Val972Ala | |
| ENST00000431873.6:c.81T>C | ||
| ENST00000389048.7:c.2915T>C | ENSP00000373700.3:p.Val972Ala | |
| ENST00000618119.4:c.1784T>C | ENSP00000482733.1:p.Val595Ala | |
| NM_004304.4:c.2915T>C | NP_004295.2:p.Val972Ala | |
| XM_024452778.1:c.68T>C | XP_024308546.1:p.Val23Ala | |
| XR_001738688.2:n.3771T>C | ||
| NM_004304.5:c.2915T>C MANE Select | NP_004295.2:p.Val972Ala |