Linked Data
ClinVar Variation Id:
485490
ClinVar RCV Id:
RCV001343721
dbSNP Id:
rs1555201304
gnomAD v3:
12-57750984-A-G
gnomAD v4:
12-57750984-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750984A>G , CM000674.2:g.57750984A>G | GRCh38 |
| NC_000012.11:g.58144767A>G , CM000674.1:g.58144767A>G | GRCh37 |
| NC_000012.10:g.56431034A>G | NCBI36 |
| NG_007484.2:g.6398T>C , LRG_490:g.6398T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257904.11:c.461T>C MANE Select | ENSP00000257904.5:p.Val154Ala | |
| ENST00000257904.10:c.461T>C | ENSP00000257904.5:p.Val154Ala | |
| ENST00000312990.10:c.265-313T>C | ENSP00000316889.6:n.265-313T>C | |
| ENST00000546489.5:c.239T>C | ENSP00000447779.1:p.Val80Ala | |
| ENST00000547281.5:c.239T>C | ENSP00000447274.1:p.Val80Ala | |
| ENST00000549606.5:c.-158+1191T>C | ENSP00000447005.1:n.-158+1191T>C | |
| ENST00000550419.5:c.461T>C | ENSP00000448098.1:p.Val154Ala | |
| ENST00000551706.1:n.827T>C | ||
| ENST00000551800.5:c.239T>C | ENSP00000449391.1:p.Val80Ala | |
| ENST00000551888.5:n.443-313T>C | ||
| ENST00000552254.5:c.461T>C | ENSP00000449179.1:p.Val154Ala | |
| ENST00000552388.1:c.461T>C | ENSP00000448963.1:p.Val154Ala | |
| ENST00000553237.5:c.*100T>C | ENSP00000448885.1:n.*100T>C | |
| NM_000075.3:c.461T>C | NP_000066.1:p.Val154Ala | |
| NM_000075.4:c.461T>C MANE Select | NP_000066.1:p.Val154Ala |