Linked Data
ClinVar Variation Id:
4079
dbSNP Id:
rs104894484
gnomAD v3:
15-68211793-C-T
gnomAD v4:
15-68211793-C-T
PubMed:
PMID:11727201
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211793C>T , CM000677.2:g.68211793C>T | GRCh38 |
| NC_000015.9:g.68504131C>T , CM000677.1:g.68504131C>T | GRCh37 |
| NC_000015.8:g.66291185C>T | NCBI36 |
| NG_008764.2:g.50419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.368G>A MANE Select | ENSP00000249806.5:p.Gly123Asp | |
| ENST00000562767.2:c.84-14165G>A | ENSP00000456336.1:n.84-14165G>A | |
| ENST00000563917.2:n.210G>A | ||
| ENST00000565471.6:c.84-2034G>A | ENSP00000457384.1:n.84-2034G>A | |
| ENST00000635747.1:c.*271G>A | ENSP00000490627.1:n.*271G>A | |
| ENST00000636212.1:c.298-52G>A | ENSP00000489851.1:n.298-52G>A | |
| ENST00000636314.1:c.183-475G>A | ENSP00000490295.1:n.183-475G>A | |
| ENST00000636674.1:n.1351G>A | ||
| ENST00000636964.1:n.1540G>A | ||
| ENST00000637054.1:c.198+6743G>A | ENSP00000490807.1:n.198+6743G>A | |
| ENST00000637223.1:c.*201-475G>A | ENSP00000490010.1:n.*201-475G>A | |
| ENST00000637329.1:c.337G>A | ||
| ENST00000637450.1:c.*22G>A | ENSP00000490204.1:n.*22G>A | |
| ENST00000637494.1:c.199-475G>A | ENSP00000490057.1:n.199-475G>A | |
| ENST00000637667.1:c.269G>A | ENSP00000489843.1:p.Gly90Asp | |
| ENST00000637823.1:c.224-150G>A | ||
| ENST00000637888.1:c.198+6743G>A | ENSP00000490546.1:n.198+6743G>A | |
| ENST00000638076.1:c.368G>A | ENSP00000490373.1:p.Gly123Asp | |
| ENST00000638144.1:n.130-475G>A | ||
| ENST00000646164.1:c.38+6743G>A | ||
| ENST00000249806.9:c.368G>A | ENSP00000249806.5:p.Gly123Asp | |
| ENST00000538696.5:c.464G>A | ENSP00000445770.1:p.Gly155Asp | |
| ENST00000562767.1:c.84-14165G>A | ENSP00000456336.1:n.84-14165G>A | |
| ENST00000563917.1:n.149G>A | ||
| ENST00000564752.1:c.368G>A | ENSP00000457822.1:p.Gly123Asp | |
| ENST00000565471.5:c.84-2034G>A | ENSP00000457384.1:n.84-2034G>A | |
| ENST00000566347.5:c.298-475G>A | ENSP00000457783.1:n.298-475G>A | |
| ENST00000567060.5:c.298-2073G>A | ENSP00000454818.1:n.298-2073G>A | |
| NM_017882.2:c.368G>A | NP_060352.1:p.Gly123Asp | |
| XR_931861.1:n.471G>A | ||
| NM_017882.3:c.368G>A MANE Select | NP_060352.1:p.Gly123Asp |