Linked Data
ClinVar Variation Id:
1920467
ClinVar RCV Id:
RCV002591169
dbSNP Id:
rs1436111338
gnomAD v3:
11-32435090-G-A
gnomAD v4:
11-32435090-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32435090G>A , CM000673.2:g.32435090G>A | GRCh38 |
| NC_000011.9:g.32456636G>A , CM000673.1:g.32456636G>A | GRCh37 |
| NC_000011.8:g.32413212G>A | NCBI36 |
| NG_009272.1:g.5452C>T , LRG_525:g.5452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.271C>T | ENSP00000331327.5:p.Leu91= | |
| ENST00000379077.9:c.271C>T | ENSP00000368368.5:p.Leu91= | |
| ENST00000448076.9:c.271C>T | ENSP00000413452.5:p.Leu91= | |
| ENST00000452863.10:c.271C>T MANE Select | ENSP00000415516.5:p.Leu91= | |
| ENST00000639563.3:c.271C>T | ENSP00000492269.3:p.Leu91= | |
| ENST00000332351.7:c.256C>T | ENSP00000331327.3:p.Leu86= | |
| ENST00000379077.7:c.256C>T | ENSP00000368368.3:p.Leu86= | |
| ENST00000448076.7:c.256C>T | ENSP00000413452.3:p.Leu86= | |
| ENST00000452863.7:c.256C>T | ENSP00000415516.3:p.Leu86= | |
| NM_000378.4:c.256C>T | NP_000369.3:p.Leu86= | |
| NM_024424.3:c.256C>T | NP_077742.2:p.Leu86= | |
| NM_024426.4:c.256C>T | NP_077744.3:p.Leu86= | |
| NM_000378.5:c.271C>T | NP_000369.4:p.Leu91= | |
| NM_024424.4:c.271C>T | NP_077742.3:p.Leu91= | |
| NM_024426.5:c.271C>T | NP_077744.4:p.Leu91= | |
| NR_160306.1:n.450C>T | ||
| NM_000378.6:c.271C>T | NP_000369.4:p.Leu91= | |
| NM_024424.5:c.271C>T | NP_077742.3:p.Leu91= | |
| NM_024426.6:c.271C>T MANE Select | NP_077744.4:p.Leu91= |