Linked Data
ClinVar Variation Id:
822661
ClinVar RCV Id:
RCV001018188
dbSNP Id:
rs1223897876
gnomAD v2:
5-131911557-T-C
gnomAD v3:
5-132575865-T-C
gnomAD v4:
5-132575865-T-C
COSMIC:
COSM1060666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132575865T>C , CM000667.2:g.132575865T>C | GRCh38 |
| NC_000005.9:g.131911557T>C , CM000667.1:g.131911557T>C | GRCh37 |
| NC_000005.8:g.131939456T>C | NCBI36 |
| NG_021151.1:g.23942T>C | |
| NG_021151.2:g.23889T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.302T>C MANE Select | ENSP00000368100.4:p.Val101Ala | |
| ENST00000638452.2:c.5T>C | ENSP00000492349.2:p.Val2Ala | |
| ENST00000638504.1:n.379T>C | ||
| ENST00000638568.2:c.5T>C | ENSP00000491158.2:p.Val2Ala | |
| ENST00000639899.1:n.462T>C | ||
| ENST00000640655.2:c.5T>C | ENSP00000491596.2:p.Val2Ala | |
| ENST00000651160.1:c.302T>C | ENSP00000498829.1:p.Val101Ala | |
| ENST00000651541.1:c.5T>C | ENSP00000498795.1:p.Val2Ala | |
| ENST00000651658.1:n.370T>C | ||
| ENST00000651723.1:c.*448+2T>C | ENSP00000498237.1:n.*448+2T>C | |
| ENST00000652016.1:c.302T>C | ENSP00000498267.1:p.Val101Ala | |
| ENST00000652485.1:c.302T>C | ENSP00000498973.1:p.Val101Ala | |
| ENST00000378823.7:c.302T>C | ENSP00000368100.4:p.Val101Ala | |
| ENST00000416135.5:c.5T>C | ENSP00000389515.1:p.Val2Ala | |
| ENST00000423956.5:c.302T>C | ENSP00000390971.1:p.Val101Ala | |
| ENST00000453394.5:c.302T>C | ENSP00000400049.1:p.Val101Ala | |
| ENST00000533482.5:c.300+2T>C | ENSP00000431225.1:n.300+2T>C | |
| NM_005732.3:c.302T>C | NP_005723.2:p.Val101Ala | |
| NM_005732.4:c.302T>C MANE Select | NP_005723.2:p.Val101Ala |