Linked Data
dbSNP Id:
rs761419712
ExAC:
15:68500738 T / G
gnomAD v2:
15-68500738-T-G
gnomAD v4:
15-68208400-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208400T>G , CM000677.2:g.68208400T>G | GRCh38 |
| NC_000015.9:g.68500738T>G , CM000677.1:g.68500738T>G | GRCh37 |
| NC_000015.8:g.66287792T>G | NCBI36 |
| NG_008764.2:g.53812A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.676A>C MANE Select | ENSP00000249806.5:p.Thr226Pro | |
| ENST00000562767.2:c.84-10772A>C | ENSP00000456336.1:n.84-10772A>C | |
| ENST00000563917.2:n.518A>C | ||
| ENST00000565471.6:c.217A>C | ENSP00000457384.1:p.Thr73Pro | |
| ENST00000635747.1:c.*579A>C | ENSP00000490627.1:n.*579A>C | |
| ENST00000636212.1:c.*346A>C | ENSP00000489851.1:n.*346A>C | |
| ENST00000636674.1:n.1778A>C | ||
| ENST00000636964.1:n.2204A>C | ||
| ENST00000637054.1:c.198+10136A>C | ENSP00000490807.1:n.198+10136A>C | |
| ENST00000637329.1:c.645A>C | ||
| ENST00000637450.1:c.*330A>C | ENSP00000490204.1:n.*330A>C | |
| ENST00000637494.1:c.388A>C | ENSP00000490057.1:p.Thr130Pro | |
| ENST00000637667.1:c.577A>C | ENSP00000489843.1:p.Thr193Pro | |
| ENST00000637823.1:c.501A>C | ||
| ENST00000637888.1:c.198+10136A>C | ENSP00000490546.1:n.198+10136A>C | |
| ENST00000638076.1:c.*279A>C | ENSP00000490373.1:n.*279A>C | |
| ENST00000638144.1:n.319A>C | ||
| ENST00000646164.1:c.39-8719A>C | ||
| ENST00000249806.9:c.676A>C | ENSP00000249806.5:p.Thr226Pro | |
| ENST00000538696.5:c.772A>C | ENSP00000445770.1:p.Thr258Pro | |
| ENST00000562767.1:c.84-10772A>C | ENSP00000456336.1:n.84-10772A>C | |
| ENST00000564752.1:c.*60A>C | ENSP00000457822.1:n.*60A>C | |
| ENST00000565471.5:c.217A>C | ENSP00000457384.1:p.Thr73Pro | |
| ENST00000566347.5:c.487A>C | ENSP00000457783.1:p.Thr163Pro | |
| ENST00000567060.5:c.*74A>C | ENSP00000454818.1:n.*74A>C | |
| NM_017882.2:c.676A>C | NP_060352.1:p.Thr226Pro | |
| XR_931861.1:n.898A>C | ||
| NM_017882.3:c.676A>C MANE Select | NP_060352.1:p.Thr226Pro |