Linked Data
ClinVar Variation Id:
2590356
ClinVar RCV Id:
RCV003365825
dbSNP Id:
rs527894804
ExAC:
1:152283178 A / G
gnomAD v2:
1-152283178-A-G
gnomAD v3:
1-152310702-A-G
gnomAD v4:
1-152310702-A-G
COSMIC:
COSM6263296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310702A>G , CM000663.2:g.152310702A>G | GRCh38 |
| NC_000001.10:g.152283178A>G , CM000663.1:g.152283178A>G | GRCh37 |
| NC_000001.9:g.150549802A>G | NCBI36 |
| NG_016190.1:g.19502T>C , LRG_1028:g.19502T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.4184T>C MANE Select | ENSP00000357789.1:p.Val1395Ala | |
| ENST00000368799.1:c.4184T>C | ENSP00000357789.1:p.Val1395Ala | |
| NM_002016.1:c.4184T>C , LRG_1028t1:c.4184T>C | NP_002007.1:p.Val1395Ala | |
| XM_011509329.1:c.4184T>C | XP_011507631.1:p.Val1395Ala | |
| NM_002016.2:c.4184T>C MANE Select | NP_002007.1:p.Val1395Ala |