Linked Data
ClinVar Variation Id:
585917
dbSNP Id:
rs1444739794
gnomAD v2:
7-44192923-A-G
gnomAD v4:
7-44153324-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153324A>G , CM000669.2:g.44153324A>G | GRCh38 |
| NC_000007.13:g.44192923A>G , CM000669.1:g.44192923A>G | GRCh37 |
| NC_000007.12:g.44159448A>G | NCBI36 |
| NG_008847.1:g.41100T>C | |
| NG_008847.2:g.49847T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*183T>C | ENSP00000379142.4:n.*183T>C | |
| ENST00000616242.5:c.185T>C | ENSP00000482149.2:p.Val62Ala | |
| ENST00000682635.1:n.671T>C | ||
| ENST00000345378.7:c.188T>C | ENSP00000223366.2:p.Val63Ala | |
| ENST00000403799.8:c.185T>C MANE Select | ENSP00000384247.3:p.Val62Ala | |
| ENST00000671824.1:c.185T>C | ENSP00000500264.1:p.Val62Ala | |
| ENST00000673284.1:c.185T>C | ENSP00000499852.1:p.Val62Ala | |
| ENST00000345378.6:c.188T>C | ENSP00000223366.2:p.Val63Ala | |
| ENST00000395796.7:c.182T>C | ENSP00000379142.3:p.Val61Ala | |
| ENST00000403799.7:c.185T>C | ENSP00000384247.3:p.Val62Ala | |
| ENST00000437084.1:c.185T>C | ENSP00000402840.1:p.Val62Ala | |
| ENST00000616242.4:c.182T>C | ENSP00000482149.1:p.Val61Ala | |
| NM_000162.3:c.185T>C | NP_000153.1:p.Val62Ala | |
| NM_033507.1:c.188T>C | NP_277042.1:p.Val63Ala | |
| NM_033508.1:c.182T>C | NP_277043.1:p.Val61Ala | |
| NM_000162.4:c.185T>C | NP_000153.1:p.Val62Ala | |
| NM_001354800.1:c.185T>C | NP_001341729.1:p.Val62Ala | |
| NM_033507.2:c.188T>C | NP_277042.1:p.Val63Ala | |
| NM_033508.2:c.182T>C | NP_277043.1:p.Val61Ala | |
| NM_000162.5:c.185T>C MANE Select | NP_000153.1:p.Val62Ala | |
| NM_033507.3:c.188T>C | NP_277042.1:p.Val63Ala | |
| NM_033508.3:c.182T>C | NP_277043.1:p.Val61Ala |