Linked Data
ClinVar Variation Id:
1424959
ClinVar RCV Id:
RCV001924167
dbSNP Id:
rs1229949294
gnomAD v4:
11-32435249-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32435249C>A , CM000673.2:g.32435249C>A | GRCh38 |
| NC_000011.9:g.32456795C>A , CM000673.1:g.32456795C>A | GRCh37 |
| NC_000011.8:g.32413371C>A | NCBI36 |
| NG_009272.1:g.5293G>T , LRG_525:g.5293G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.112G>T | ENSP00000331327.5:p.Val38Phe | |
| ENST00000379077.9:c.112G>T | ENSP00000368368.5:p.Val38Phe | |
| ENST00000448076.9:c.112G>T | ENSP00000413452.5:p.Val38Phe | |
| ENST00000452863.10:c.112G>T MANE Select | ENSP00000415516.5:p.Val38Phe | |
| ENST00000639563.3:c.112G>T | ENSP00000492269.3:p.Val38Phe | |
| ENST00000332351.7:c.97G>T | ENSP00000331327.3:p.Val33Phe | |
| ENST00000379077.7:c.97G>T | ENSP00000368368.3:p.Val33Phe | |
| ENST00000448076.7:c.97G>T | ENSP00000413452.3:p.Val33Phe | |
| ENST00000452863.7:c.97G>T | ENSP00000415516.3:p.Val33Phe | |
| NM_000378.4:c.97G>T | NP_000369.3:p.Val33Phe | |
| NM_024424.3:c.97G>T | NP_077742.2:p.Val33Phe | |
| NM_024426.4:c.97G>T | NP_077744.3:p.Val33Phe | |
| NM_000378.5:c.112G>T | NP_000369.4:p.Val38Phe | |
| NM_024424.4:c.112G>T | NP_077742.3:p.Val38Phe | |
| NM_024426.5:c.112G>T | NP_077744.4:p.Val38Phe | |
| NR_160306.1:n.291G>T | ||
| NM_000378.6:c.112G>T | NP_000369.4:p.Val38Phe | |
| NM_024424.5:c.112G>T | NP_077742.3:p.Val38Phe | |
| NM_024426.6:c.112G>T MANE Select | NP_077744.4:p.Val38Phe |