Linked Data
ClinVar Variation Id:
2044597
ClinVar RCV Id:
RCV002903807
dbSNP Id:
rs1449019695
gnomAD v2:
15-68504096-G-C
gnomAD v3:
15-68211758-G-C
gnomAD v4:
15-68211758-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211758G>C , CM000677.2:g.68211758G>C | GRCh38 |
| NC_000015.9:g.68504096G>C , CM000677.1:g.68504096G>C | GRCh37 |
| NC_000015.8:g.66291150G>C | NCBI36 |
| NG_008764.2:g.50454C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.403C>G MANE Select | ENSP00000249806.5:p.His135Asp | |
| ENST00000562767.2:c.84-14130C>G | ENSP00000456336.1:n.84-14130C>G | |
| ENST00000563917.2:n.245C>G | ||
| ENST00000565471.6:c.84-1999C>G | ENSP00000457384.1:n.84-1999C>G | |
| ENST00000635747.1:c.*306C>G | ENSP00000490627.1:n.*306C>G | |
| ENST00000636212.1:c.298-17C>G | ENSP00000489851.1:n.298-17C>G | |
| ENST00000636314.1:c.183-440C>G | ENSP00000490295.1:n.183-440C>G | |
| ENST00000636674.1:n.1386C>G | ||
| ENST00000636964.1:n.1575C>G | ||
| ENST00000637054.1:c.198+6778C>G | ENSP00000490807.1:n.198+6778C>G | |
| ENST00000637223.1:c.*201-440C>G | ENSP00000490010.1:n.*201-440C>G | |
| ENST00000637329.1:c.372C>G | ||
| ENST00000637450.1:c.*57C>G | ENSP00000490204.1:n.*57C>G | |
| ENST00000637494.1:c.199-440C>G | ENSP00000490057.1:n.199-440C>G | |
| ENST00000637667.1:c.304C>G | ENSP00000489843.1:p.His102Asp | |
| ENST00000637823.1:c.224-115C>G | ||
| ENST00000637888.1:c.198+6778C>G | ENSP00000490546.1:n.198+6778C>G | |
| ENST00000638076.1:c.403C>G | ENSP00000490373.1:p.His135Asp | |
| ENST00000638144.1:n.130-440C>G | ||
| ENST00000646164.1:c.38+6778C>G | ||
| ENST00000249806.9:c.403C>G | ENSP00000249806.5:p.His135Asp | |
| ENST00000538696.5:c.499C>G | ENSP00000445770.1:p.His167Asp | |
| ENST00000562767.1:c.84-14130C>G | ENSP00000456336.1:n.84-14130C>G | |
| ENST00000563917.1:n.184C>G | ||
| ENST00000564752.1:c.403C>G | ENSP00000457822.1:p.His135Asp | |
| ENST00000565471.5:c.84-1999C>G | ENSP00000457384.1:n.84-1999C>G | |
| ENST00000566347.5:c.298-440C>G | ENSP00000457783.1:n.298-440C>G | |
| ENST00000567060.5:c.298-2038C>G | ENSP00000454818.1:n.298-2038C>G | |
| NM_017882.2:c.403C>G | NP_060352.1:p.His135Asp | |
| XR_931861.1:n.506C>G | ||
| NM_017882.3:c.403C>G MANE Select | NP_060352.1:p.His135Asp |