Linked Data
ClinVar Variation Id:
2844002
ClinVar RCV Id:
RCV003648443
COSMIC:
COSM6142890
MyVariant Identifiers:
chr15:g.68500742C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208404C>A , CM000677.2:g.68208404C>A | GRCh38 |
| NC_000015.9:g.68500742C>A , CM000677.1:g.68500742C>A | GRCh37 |
| NC_000015.8:g.66287796C>A | NCBI36 |
| NG_008764.2:g.53808G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.672G>T MANE Select | ENSP00000249806.5:p.Leu224= | |
| ENST00000562767.2:c.84-10776G>T | ENSP00000456336.1:n.84-10776G>T | |
| ENST00000563917.2:n.514G>T | ||
| ENST00000565471.6:c.213G>T | ENSP00000457384.1:p.Leu71= | |
| ENST00000635747.1:c.*575G>T | ENSP00000490627.1:n.*575G>T | |
| ENST00000636212.1:c.*342G>T | ENSP00000489851.1:n.*342G>T | |
| ENST00000636674.1:n.1774G>T | ||
| ENST00000636964.1:n.2200G>T | ||
| ENST00000637054.1:c.198+10132G>T | ENSP00000490807.1:n.198+10132G>T | |
| ENST00000637329.1:c.641G>T | ||
| ENST00000637450.1:c.*326G>T | ENSP00000490204.1:n.*326G>T | |
| ENST00000637494.1:c.384G>T | ENSP00000490057.1:p.Leu128= | |
| ENST00000637667.1:c.573G>T | ENSP00000489843.1:p.Leu191= | |
| ENST00000637823.1:c.497G>T | ||
| ENST00000637888.1:c.198+10132G>T | ENSP00000490546.1:n.198+10132G>T | |
| ENST00000638076.1:c.*275G>T | ENSP00000490373.1:n.*275G>T | |
| ENST00000638144.1:n.315G>T | ||
| ENST00000646164.1:c.39-8723G>T | ||
| ENST00000249806.9:c.672G>T | ENSP00000249806.5:p.Leu224= | |
| ENST00000538696.5:c.768G>T | ENSP00000445770.1:p.Leu256= | |
| ENST00000562767.1:c.84-10776G>T | ENSP00000456336.1:n.84-10776G>T | |
| ENST00000564752.1:c.*56G>T | ENSP00000457822.1:n.*56G>T | |
| ENST00000565471.5:c.213G>T | ENSP00000457384.1:p.Leu71= | |
| ENST00000566347.5:c.483G>T | ENSP00000457783.1:p.Leu161= | |
| ENST00000567060.5:c.*70G>T | ENSP00000454818.1:n.*70G>T | |
| NM_017882.2:c.672G>T | NP_060352.1:p.Leu224= | |
| XR_931861.1:n.894G>T | ||
| NM_017882.3:c.672G>T MANE Select | NP_060352.1:p.Leu224= |