Linked Data
ClinVar Variation Id:
205154
dbSNP Id:
rs145247814
ExAC:
15:68506655 G / A
gnomAD v2:
15-68506655-G-A
gnomAD v3:
15-68214317-G-A
gnomAD v4:
15-68214317-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68214317G>A , CM000677.2:g.68214317G>A | GRCh38 |
| NC_000015.9:g.68506655G>A , CM000677.1:g.68506655G>A | GRCh37 |
| NC_000015.8:g.66293709G>A | NCBI36 |
| NG_008764.2:g.47895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.270C>T MANE Select | ENSP00000249806.5:p.Asn90= | |
| ENST00000562767.2:c.83+15185C>T | ENSP00000456336.1:n.83+15185C>T | |
| ENST00000563917.2:n.112C>T | ||
| ENST00000565471.6:c.84-4558C>T | ENSP00000457384.1:n.84-4558C>T | |
| ENST00000635747.1:c.*173C>T | ENSP00000490627.1:n.*173C>T | |
| ENST00000635754.1:n.1292C>T | ||
| ENST00000636020.1:n.402C>T | ||
| ENST00000636212.1:c.270C>T | ENSP00000489851.1:p.Asn90= | |
| ENST00000636314.1:c.155C>T | ENSP00000490295.1:p.Thr52Met | |
| ENST00000637054.1:c.198+4219C>T | ENSP00000490807.1:n.198+4219C>T | |
| ENST00000637223.1:c.*173C>T | ENSP00000490010.1:n.*173C>T | |
| ENST00000637329.1:c.181C>T | ||
| ENST00000637450.1:c.155C>T | ENSP00000490204.1:p.Thr52Met | |
| ENST00000637494.1:c.199-2999C>T | ENSP00000490057.1:n.199-2999C>T | |
| ENST00000637667.1:c.199-2454C>T | ENSP00000489843.1:n.199-2454C>T | |
| ENST00000637823.1:c.196C>T | ||
| ENST00000637888.1:c.198+4219C>T | ENSP00000490546.1:n.198+4219C>T | |
| ENST00000638076.1:c.270C>T | ENSP00000490373.1:p.Asn90= | |
| ENST00000638144.1:n.102C>T | ||
| ENST00000646164.1:c.38+4219C>T | ||
| ENST00000249806.9:c.270C>T | ENSP00000249806.5:p.Asn90= | |
| ENST00000538696.5:c.366C>T | ENSP00000445770.1:p.Asn122= | |
| ENST00000562767.1:c.83+15185C>T | ENSP00000456336.1:n.83+15185C>T | |
| ENST00000563917.1:n.51C>T | ||
| ENST00000564752.1:c.270C>T | ENSP00000457822.1:p.Asn90= | |
| ENST00000564846.1:n.702C>T | ||
| ENST00000565471.5:c.84-4558C>T | ENSP00000457384.1:n.84-4558C>T | |
| ENST00000566347.5:c.270C>T | ENSP00000457783.1:p.Asn90= | |
| ENST00000567060.5:c.270C>T | ENSP00000454818.1:p.Asn90= | |
| NM_017882.2:c.270C>T | NP_060352.1:p.Asn90= | |
| XR_931861.1:n.373C>T | ||
| NM_017882.3:c.270C>T MANE Select | NP_060352.1:p.Asn90= |