Linked Data
ClinVar Variation Id:
2160782
ClinVar RCV Id:
RCV003086297
gnomAD v4:
15-68211852-C-T
MyVariant Identifiers:
chr15:g.68504190C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211852C>T , CM000677.2:g.68211852C>T | GRCh38 |
| NC_000015.9:g.68504190C>T , CM000677.1:g.68504190C>T | GRCh37 |
| NC_000015.8:g.66291244C>T | NCBI36 |
| NG_008764.2:g.50360G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.309G>A MANE Select | ENSP00000249806.5:p.Arg103= | |
| ENST00000562767.2:c.84-14224G>A | ENSP00000456336.1:n.84-14224G>A | |
| ENST00000563917.2:n.151G>A | ||
| ENST00000565471.6:c.84-2093G>A | ENSP00000457384.1:n.84-2093G>A | |
| ENST00000635747.1:c.*212G>A | ENSP00000490627.1:n.*212G>A | |
| ENST00000636212.1:c.298-111G>A | ENSP00000489851.1:n.298-111G>A | |
| ENST00000636314.1:c.183-534G>A | ENSP00000490295.1:n.183-534G>A | |
| ENST00000636674.1:n.1292G>A | ||
| ENST00000636964.1:n.1481G>A | ||
| ENST00000637054.1:c.198+6684G>A | ENSP00000490807.1:n.198+6684G>A | |
| ENST00000637223.1:c.*201-534G>A | ENSP00000490010.1:n.*201-534G>A | |
| ENST00000637329.1:c.278G>A | ||
| ENST00000637450.1:c.194G>A | ENSP00000490204.1:p.Gly65Asp | |
| ENST00000637494.1:c.199-534G>A | ENSP00000490057.1:n.199-534G>A | |
| ENST00000637667.1:c.210G>A | ENSP00000489843.1:p.Arg70= | |
| ENST00000637823.1:c.224-209G>A | ||
| ENST00000637888.1:c.198+6684G>A | ENSP00000490546.1:n.198+6684G>A | |
| ENST00000638076.1:c.309G>A | ENSP00000490373.1:p.Arg103= | |
| ENST00000638144.1:n.130-534G>A | ||
| ENST00000646164.1:c.38+6684G>A | ||
| ENST00000249806.9:c.309G>A | ENSP00000249806.5:p.Arg103= | |
| ENST00000538696.5:c.405G>A | ENSP00000445770.1:p.Arg135= | |
| ENST00000562767.1:c.84-14224G>A | ENSP00000456336.1:n.84-14224G>A | |
| ENST00000563917.1:n.90G>A | ||
| ENST00000564752.1:c.309G>A | ENSP00000457822.1:p.Arg103= | |
| ENST00000565471.5:c.84-2093G>A | ENSP00000457384.1:n.84-2093G>A | |
| ENST00000566347.5:c.298-534G>A | ENSP00000457783.1:n.298-534G>A | |
| ENST00000567060.5:c.298-2132G>A | ENSP00000454818.1:n.298-2132G>A | |
| NM_017882.2:c.309G>A | NP_060352.1:p.Arg103= | |
| XR_931861.1:n.412G>A | ||
| NM_017882.3:c.309G>A MANE Select | NP_060352.1:p.Arg103= |