Linked Data
dbSNP Id:
rs1057011963
gnomAD v2:
16-68861683-C-T
gnomAD v3:
16-68827780-C-T
gnomAD v4:
16-68827780-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68827780C>T , CM000678.2:g.68827780C>T | GRCh38 |
| NC_000016.9:g.68861683C>T , CM000678.1:g.68861683C>T | GRCh37 |
| NC_000016.8:g.67419184C>T | NCBI36 |
| NG_008021.1:g.95489C>T , LRG_301:g.95489C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2165-394C>T MANE Select | ENSP00000261769.4:n.2165-394C>T | |
| ENST00000261769.9:c.2165-394C>T | ENSP00000261769.4:n.2165-394C>T | |
| ENST00000422392.6:c.1982-394C>T | ENSP00000414946.2:n.1982-394C>T | |
| ENST00000562118.1:n.383-394C>T | ||
| ENST00000562836.5:n.2236-394C>T | ||
| ENST00000566510.5:c.*831-394C>T | ENSP00000458139.1:n.*831-394C>T | |
| ENST00000566612.5:c.*405-394C>T | ENSP00000454782.1:n.*405-394C>T | |
| ENST00000611625.4:c.2228-394C>T | ENSP00000481063.1:n.2228-394C>T | |
| ENST00000612417.4:c.1853+1226C>T | ENSP00000478360.1:n.1853+1226C>T | |
| ENST00000621016.4:c.1865+5626C>T | ENSP00000480664.1:n.1865+5626C>T | |
| NM_004360.3:c.2165-394C>T , LRG_301t1:c.2165-394C>T | NP_004351.1:n.2165-394C>T | |
| XM_011523488.1:c.1430-394C>T | XP_011521790.1:n.1430-394C>T | |
| XM_011523489.1:c.1430-394C>T | XP_011521791.1:n.1430-394C>T | |
| NM_001317184.1:c.1982-394C>T | NP_001304113.1:n.1982-394C>T | |
| NM_001317185.1:c.617-394C>T | NP_001304114.1:n.617-394C>T | |
| NM_001317186.1:c.200-394C>T | NP_001304115.1:n.200-394C>T | |
| NM_004360.4:c.2165-394C>T | NP_004351.1:n.2165-394C>T | |
| NM_004360.5:c.2165-394C>T MANE Select | NP_004351.1:n.2165-394C>T | |
| NM_001317184.2:c.1982-394C>T | NP_001304113.1:n.1982-394C>T | |
| NM_001317185.2:c.617-394C>T | NP_001304114.1:n.617-394C>T | |
| NM_001317186.2:c.200-394C>T | NP_001304115.1:n.200-394C>T |