Linked Data
ClinVar Variation Id:
2114533
ClinVar RCV Id:
RCV003030096
gnomAD v4:
8-15748383-C-T
MyVariant Identifiers:
chr8:g.15605892C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.15748383C>T , CM000670.2:g.15748383C>T | GRCh38 |
| NC_000008.10:g.15605892C>T , CM000670.1:g.15605892C>T | GRCh37 |
| NC_000008.9:g.15650263C>T | NCBI36 |
| NG_012141.2:g.213163C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503731.6:c.946C>T MANE Select | ENSP00000424544.1:p.Leu316= | |
| ENST00000382020.8:c.946C>T | ENSP00000371450.4:p.Leu316= | |
| ENST00000503731.5:c.946C>T | ENSP00000424544.1:p.Leu316= | |
| ENST00000506802.5:c.937+4771C>T | ENSP00000425777.1:n.937+4771C>T | |
| ENST00000507316.1:n.178C>T | ||
| ENST00000508446.1:n.241+4771C>T | ||
| ENST00000510836.5:c.*42+4771C>T | ENSP00000426973.1:n.*42+4771C>T | |
| ENST00000511342.1:n.92C>T | ||
| ENST00000511783.2:c.808C>T | ENSP00000426880.2:p.Leu270= | |
| ENST00000515859.5:c.*51C>T | ENSP00000420829.1:n.*51C>T | |
| NM_006765.3:c.946C>T | NP_006756.2:p.Leu316= | |
| NM_178234.2:c.946C>T | NP_839952.1:p.Leu316= | |
| XM_011544651.1:c.778C>T | XP_011542953.1:p.Leu260= | |
| XM_011544652.1:c.778C>T | XP_011542954.1:p.Leu260= | |
| XM_011544653.1:c.778C>T | XP_011542955.1:p.Leu260= | |
| XM_011544654.1:c.769+4771C>T | XP_011542956.1:n.769+4771C>T | |
| NM_001356429.1:c.946C>T | NP_001343358.1:p.Leu316= | |
| XM_011544651.3:c.778C>T | XP_011542953.1:p.Leu260= | |
| XM_017013861.2:c.778C>T | XP_016869350.1:p.Leu260= | |
| NM_001356429.2:c.946C>T | NP_001343358.1:p.Leu316= | |
| NM_006765.4:c.946C>T MANE Select | NP_006756.2:p.Leu316= |