Linked Data
ClinVar Variation Id:
2865684
ClinVar RCV Id:
RCV003648625
gnomAD v4:
15-68208263-C-T
MyVariant Identifiers:
chr15:g.68500601C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208263C>T , CM000677.2:g.68208263C>T | GRCh38 |
| NC_000015.9:g.68500601C>T , CM000677.1:g.68500601C>T | GRCh37 |
| NC_000015.8:g.66287655C>T | NCBI36 |
| NG_008764.2:g.53949G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.813G>A MANE Select | ENSP00000249806.5:p.Leu271= | |
| ENST00000562767.2:c.84-10635G>A | ENSP00000456336.1:n.84-10635G>A | |
| ENST00000565471.6:c.354G>A | ENSP00000457384.1:p.Leu118= | |
| ENST00000635747.1:c.*716G>A | ENSP00000490627.1:n.*716G>A | |
| ENST00000636212.1:c.*483G>A | ENSP00000489851.1:n.*483G>A | |
| ENST00000636674.1:n.1915G>A | ||
| ENST00000636964.1:n.2341G>A | ||
| ENST00000637054.1:c.198+10273G>A | ENSP00000490807.1:n.198+10273G>A | |
| ENST00000637329.1:c.782G>A | ||
| ENST00000637450.1:c.*467G>A | ENSP00000490204.1:n.*467G>A | |
| ENST00000637494.1:c.525G>A | ENSP00000490057.1:p.Leu175= | |
| ENST00000637667.1:c.714G>A | ENSP00000489843.1:p.Leu238= | |
| ENST00000637823.1:c.638G>A | ||
| ENST00000637888.1:c.198+10273G>A | ENSP00000490546.1:n.198+10273G>A | |
| ENST00000638076.1:c.*416G>A | ENSP00000490373.1:n.*416G>A | |
| ENST00000638144.1:n.456G>A | ||
| ENST00000646164.1:c.39-8582G>A | ||
| ENST00000249806.9:c.813G>A | ENSP00000249806.5:p.Leu271= | |
| ENST00000538696.5:c.909G>A | ENSP00000445770.1:p.Leu303= | |
| ENST00000562767.1:c.84-10635G>A | ENSP00000456336.1:n.84-10635G>A | |
| ENST00000565471.5:c.354G>A | ENSP00000457384.1:p.Leu118= | |
| ENST00000566347.5:c.624G>A | ENSP00000457783.1:p.Leu208= | |
| ENST00000567060.5:c.*211G>A | ENSP00000454818.1:n.*211G>A | |
| NM_017882.2:c.813G>A | NP_060352.1:p.Leu271= | |
| NM_017882.3:c.813G>A MANE Select | NP_060352.1:p.Leu271= |