Linked Data
ClinVar Variation Id:
2714273
ClinVar RCV Id:
RCV003534127
gnomAD v4:
15-68208401-G-T
MyVariant Identifiers:
chr15:g.68500739G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208401G>T , CM000677.2:g.68208401G>T | GRCh38 |
| NC_000015.9:g.68500739G>T , CM000677.1:g.68500739G>T | GRCh37 |
| NC_000015.8:g.66287793G>T | NCBI36 |
| NG_008764.2:g.53811C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.675C>A MANE Select | ENSP00000249806.5:p.Val225= | |
| ENST00000562767.2:c.84-10773C>A | ENSP00000456336.1:n.84-10773C>A | |
| ENST00000563917.2:n.517C>A | ||
| ENST00000565471.6:c.216C>A | ENSP00000457384.1:p.Val72= | |
| ENST00000635747.1:c.*578C>A | ENSP00000490627.1:n.*578C>A | |
| ENST00000636212.1:c.*345C>A | ENSP00000489851.1:n.*345C>A | |
| ENST00000636674.1:n.1777C>A | ||
| ENST00000636964.1:n.2203C>A | ||
| ENST00000637054.1:c.198+10135C>A | ENSP00000490807.1:n.198+10135C>A | |
| ENST00000637329.1:c.644C>A | ||
| ENST00000637450.1:c.*329C>A | ENSP00000490204.1:n.*329C>A | |
| ENST00000637494.1:c.387C>A | ENSP00000490057.1:p.Val129= | |
| ENST00000637667.1:c.576C>A | ENSP00000489843.1:p.Val192= | |
| ENST00000637823.1:c.500C>A | ||
| ENST00000637888.1:c.198+10135C>A | ENSP00000490546.1:n.198+10135C>A | |
| ENST00000638076.1:c.*278C>A | ENSP00000490373.1:n.*278C>A | |
| ENST00000638144.1:n.318C>A | ||
| ENST00000646164.1:c.39-8720C>A | ||
| ENST00000249806.9:c.675C>A | ENSP00000249806.5:p.Val225= | |
| ENST00000538696.5:c.771C>A | ENSP00000445770.1:p.Val257= | |
| ENST00000562767.1:c.84-10773C>A | ENSP00000456336.1:n.84-10773C>A | |
| ENST00000564752.1:c.*59C>A | ENSP00000457822.1:n.*59C>A | |
| ENST00000565471.5:c.216C>A | ENSP00000457384.1:p.Val72= | |
| ENST00000566347.5:c.486C>A | ENSP00000457783.1:p.Val162= | |
| ENST00000567060.5:c.*73C>A | ENSP00000454818.1:n.*73C>A | |
| NM_017882.2:c.675C>A | NP_060352.1:p.Val225= | |
| XR_931861.1:n.897C>A | ||
| NM_017882.3:c.675C>A MANE Select | NP_060352.1:p.Val225= |