Linked Data
dbSNP Id:
rs547304971
gnomAD v2:
15-68503912-T-C
gnomAD v3:
15-68211574-T-C
gnomAD v4:
15-68211574-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211574T>C , CM000677.2:g.68211574T>C | GRCh38 |
| NC_000015.9:g.68503912T>C , CM000677.1:g.68503912T>C | GRCh37 |
| NC_000015.8:g.66290966T>C | NCBI36 |
| NG_008764.2:g.50638A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.486+101A>G MANE Select | ENSP00000249806.5:n.486+101A>G | |
| ENST00000562767.2:c.84-13946A>G | ENSP00000456336.1:n.84-13946A>G | |
| ENST00000563917.2:n.328+101A>G | ||
| ENST00000565471.6:c.84-1815A>G | ENSP00000457384.1:n.84-1815A>G | |
| ENST00000635747.1:c.*389+101A>G | ENSP00000490627.1:n.*389+101A>G | |
| ENST00000636212.1:c.*138A>G | ENSP00000489851.1:n.*138A>G | |
| ENST00000636314.1:c.183-256A>G | ENSP00000490295.1:n.183-256A>G | |
| ENST00000636674.1:n.1570A>G | ||
| ENST00000636964.1:n.1759A>G | ||
| ENST00000637054.1:c.198+6962A>G | ENSP00000490807.1:n.198+6962A>G | |
| ENST00000637223.1:c.*201-256A>G | ENSP00000490010.1:n.*201-256A>G | |
| ENST00000637329.1:c.455+101A>G | ||
| ENST00000637450.1:c.*140+101A>G | ENSP00000490204.1:n.*140+101A>G | |
| ENST00000637494.1:c.199-256A>G | ENSP00000490057.1:n.199-256A>G | |
| ENST00000637667.1:c.387+101A>G | ENSP00000489843.1:n.387+101A>G | |
| ENST00000637823.1:c.293A>G | ||
| ENST00000637888.1:c.198+6962A>G | ENSP00000490546.1:n.198+6962A>G | |
| ENST00000638076.1:c.*71A>G | ENSP00000490373.1:n.*71A>G | |
| ENST00000638144.1:n.130-256A>G | ||
| ENST00000646164.1:c.38+6962A>G | ||
| ENST00000249806.9:c.486+101A>G | ENSP00000249806.5:n.486+101A>G | |
| ENST00000538696.5:c.582+101A>G | ENSP00000445770.1:n.582+101A>G | |
| ENST00000562767.1:c.84-13946A>G | ENSP00000456336.1:n.84-13946A>G | |
| ENST00000563917.1:n.368A>G | ||
| ENST00000564752.1:c.512+75A>G | ENSP00000457822.1:n.512+75A>G | |
| ENST00000565471.5:c.84-1815A>G | ENSP00000457384.1:n.84-1815A>G | |
| ENST00000566347.5:c.298-256A>G | ENSP00000457783.1:n.298-256A>G | |
| ENST00000567060.5:c.298-1854A>G | ENSP00000454818.1:n.298-1854A>G | |
| NM_017882.2:c.486+101A>G | NP_060352.1:n.486+101A>G | |
| XR_931861.1:n.690A>G | ||
| NM_017882.3:c.486+101A>G MANE Select | NP_060352.1:n.486+101A>G |