Linked Data
ClinVar Variation Id:
511333
dbSNP Id:
rs1347398610
gnomAD v2:
15-68500496-G-A
gnomAD v3:
15-68208158-G-A
gnomAD v4:
15-68208158-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208158G>A , CM000677.2:g.68208158G>A | GRCh38 |
| NC_000015.9:g.68500496G>A , CM000677.1:g.68500496G>A | GRCh37 |
| NC_000015.8:g.66287550G>A | NCBI36 |
| NG_008764.2:g.54054C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.918C>T MANE Select | ENSP00000249806.5:p.His306= | |
| ENST00000562767.2:c.84-10530C>T | ENSP00000456336.1:n.84-10530C>T | |
| ENST00000565471.6:c.459C>T | ENSP00000457384.1:p.His153= | |
| ENST00000635747.1:c.*821C>T | ENSP00000490627.1:n.*821C>T | |
| ENST00000636212.1:c.*588C>T | ENSP00000489851.1:n.*588C>T | |
| ENST00000636964.1:n.2446C>T | ||
| ENST00000637054.1:c.198+10378C>T | ENSP00000490807.1:n.198+10378C>T | |
| ENST00000637329.1:c.887C>T | ||
| ENST00000637494.1:c.630C>T | ENSP00000490057.1:p.His210= | |
| ENST00000637888.1:c.198+10378C>T | ENSP00000490546.1:n.198+10378C>T | |
| ENST00000638076.1:c.*521C>T | ENSP00000490373.1:n.*521C>T | |
| ENST00000638144.1:n.561C>T | ||
| ENST00000646164.1:c.39-8477C>T | ||
| ENST00000249806.9:c.918C>T | ENSP00000249806.5:p.His306= | |
| ENST00000538696.5:c.1014C>T | ENSP00000445770.1:p.His338= | |
| ENST00000562767.1:c.84-10530C>T | ENSP00000456336.1:n.84-10530C>T | |
| ENST00000565471.5:c.459C>T | ENSP00000457384.1:p.His153= | |
| ENST00000566347.5:c.729C>T | ENSP00000457783.1:p.His243= | |
| ENST00000567060.5:c.*316C>T | ENSP00000454818.1:n.*316C>T | |
| NM_017882.2:c.918C>T | NP_060352.1:p.His306= | |
| NM_017882.3:c.918C>T MANE Select | NP_060352.1:p.His306= |