Linked Data
ClinVar Variation Id:
2078657
ClinVar RCV Id:
RCV002988750
dbSNP Id:
rs972288593
gnomAD v2:
9-139581691-A-G
gnomAD v3:
9-136687239-A-G
gnomAD v4:
9-136687239-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136687239A>G , CM000671.2:g.136687239A>G | GRCh38 |
| NC_000009.11:g.139581691A>G , CM000671.1:g.139581691A>G | GRCh37 |
| NC_000009.10:g.138701512A>G | NCBI36 |
| NG_008090.1:g.5221T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.119T>C MANE Select | ENSP00000360761.2:p.Val40Ala | |
| ENST00000371694.7:c.119T>C | ENSP00000360759.3:p.Val40Ala | |
| ENST00000371696.6:c.119T>C | ENSP00000360761.2:p.Val40Ala | |
| ENST00000470861.1:n.127T>C | ||
| ENST00000538402.1:c.119T>C | ENSP00000438919.1:p.Val40Ala | |
| NM_001012727.1:c.119T>C | NP_001012745.1:p.Val40Ala | |
| NM_006412.3:c.119T>C | NP_006403.2:p.Val40Ala | |
| NM_006412.4:c.119T>C MANE Select | NP_006403.2:p.Val40Ala | |
| NM_001012727.2:c.119T>C | NP_001012745.1:p.Val40Ala |