Linked Data
ClinVar Variation Id:
1086484
ClinVar RCV Id:
RCV001404288
dbSNP Id:
rs779516322
gnomAD v4:
15-80159764-C-T
MyVariant Identifiers:
chr15:g.80452106C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80159764C>T , CM000677.2:g.80159764C>T | GRCh38 |
| NC_000015.9:g.80452106C>T , CM000677.1:g.80452106C>T | GRCh37 |
| NC_000015.8:g.78239161C>T | NCBI36 |
| NG_012833.1:g.11766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.201C>T | ENSP00000507680.1:p.Leu67= | |
| ENST00000682012.1:n.276C>T | ||
| ENST00000683593.1:n.78C>T | ||
| ENST00000684363.1:c.201C>T | ENSP00000507314.1:p.Leu67= | |
| ENST00000684569.1:n.246C>T | ||
| ENST00000561421.6:c.201C>T MANE Select | ENSP00000453347.2:p.Leu67= | |
| ENST00000646551.1:n.1688C>T | ||
| ENST00000261755.9:c.201C>T | ENSP00000261755.5:p.Leu67= | |
| ENST00000407106.5:c.201C>T | ENSP00000385080.1:p.Leu67= | |
| ENST00000537726.5:n.283C>T | ||
| ENST00000539156.5:c.-10C>T | ENSP00000454271.1:n.-10C>T | |
| ENST00000558022.5:c.201C>T | ENSP00000453152.1:p.Leu67= | |
| ENST00000558767.5:n.462C>T | ||
| ENST00000561369.1:n.281C>T | ||
| ENST00000561421.5:c.201C>T | ENSP00000453347.1:p.Leu67= | |
| NM_000137.2:c.201C>T | NP_000128.1:p.Leu67= | |
| XM_024449872.1:c.201C>T | XP_024305640.1:p.Leu67= | |
| NM_000137.4:c.201C>T MANE Select | NP_000128.1:p.Leu67= | |
| NM_001374377.1:c.201C>T | NP_001361306.1:p.Leu67= | |
| NM_001374380.1:c.201C>T | NP_001361309.1:p.Leu67= |