Linked Data
ClinVar Variation Id:
409272
ClinVar RCV Id:
RCV000470949
dbSNP Id:
rs140179213
gnomAD v2:
15-68504170-C-T
gnomAD v3:
15-68211832-C-T
gnomAD v4:
15-68211832-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211832C>T , CM000677.2:g.68211832C>T | GRCh38 |
| NC_000015.9:g.68504170C>T , CM000677.1:g.68504170C>T | GRCh37 |
| NC_000015.8:g.66291224C>T | NCBI36 |
| NG_008764.2:g.50380G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.329G>A MANE Select | ENSP00000249806.5:p.Arg110His | |
| ENST00000562767.2:c.84-14204G>A | ENSP00000456336.1:n.84-14204G>A | |
| ENST00000563917.2:n.171G>A | ||
| ENST00000565471.6:c.84-2073G>A | ENSP00000457384.1:n.84-2073G>A | |
| ENST00000635747.1:c.*232G>A | ENSP00000490627.1:n.*232G>A | |
| ENST00000636212.1:c.298-91G>A | ENSP00000489851.1:n.298-91G>A | |
| ENST00000636314.1:c.183-514G>A | ENSP00000490295.1:n.183-514G>A | |
| ENST00000636674.1:n.1312G>A | ||
| ENST00000636964.1:n.1501G>A | ||
| ENST00000637054.1:c.198+6704G>A | ENSP00000490807.1:n.198+6704G>A | |
| ENST00000637223.1:c.*201-514G>A | ENSP00000490010.1:n.*201-514G>A | |
| ENST00000637329.1:c.298G>A | ||
| ENST00000637450.1:c.214G>A | ENSP00000490204.1:p.Ala72Thr | |
| ENST00000637494.1:c.199-514G>A | ENSP00000490057.1:n.199-514G>A | |
| ENST00000637667.1:c.230G>A | ENSP00000489843.1:p.Arg77His | |
| ENST00000637823.1:c.224-189G>A | ||
| ENST00000637888.1:c.198+6704G>A | ENSP00000490546.1:n.198+6704G>A | |
| ENST00000638076.1:c.329G>A | ENSP00000490373.1:p.Arg110His | |
| ENST00000638144.1:n.130-514G>A | ||
| ENST00000646164.1:c.38+6704G>A | ||
| ENST00000249806.9:c.329G>A | ENSP00000249806.5:p.Arg110His | |
| ENST00000538696.5:c.425G>A | ENSP00000445770.1:p.Arg142His | |
| ENST00000562767.1:c.84-14204G>A | ENSP00000456336.1:n.84-14204G>A | |
| ENST00000563917.1:n.110G>A | ||
| ENST00000564752.1:c.329G>A | ENSP00000457822.1:p.Arg110His | |
| ENST00000565471.5:c.84-2073G>A | ENSP00000457384.1:n.84-2073G>A | |
| ENST00000566347.5:c.298-514G>A | ENSP00000457783.1:n.298-514G>A | |
| ENST00000567060.5:c.298-2112G>A | ENSP00000454818.1:n.298-2112G>A | |
| NM_017882.2:c.329G>A | NP_060352.1:p.Arg110His | |
| XR_931861.1:n.432G>A | ||
| NM_017882.3:c.329G>A MANE Select | NP_060352.1:p.Arg110His |