Linked Data
dbSNP Id:
rs766731829
ExAC:
16:68849688 C / G
gnomAD v2:
16-68849688-C-G
gnomAD v4:
16-68815785-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68815785C>G , CM000678.2:g.68815785C>G | GRCh38 |
| NC_000016.9:g.68849688C>G , CM000678.1:g.68849688C>G | GRCh37 |
| NC_000016.8:g.67407189C>G | NCBI36 |
| NG_008021.1:g.83494C>G , LRG_301:g.83494C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1565+26C>G MANE Select | ENSP00000261769.4:n.1565+26C>G | |
| ENST00000261769.9:c.1565+26C>G | ENSP00000261769.4:n.1565+26C>G | |
| ENST00000422392.6:c.1382+26C>G | ENSP00000414946.2:n.1382+26C>G | |
| ENST00000562836.5:n.1636+26C>G | ||
| ENST00000566510.5:c.*231+26C>G | ENSP00000458139.1:n.*231+26C>G | |
| ENST00000566612.5:c.1565+26C>G | ENSP00000454782.1:n.1565+26C>G | |
| ENST00000611625.4:c.1628+26C>G | ENSP00000481063.1:n.1628+26C>G | |
| ENST00000612417.4:c.1565+26C>G | ENSP00000478360.1:n.1565+26C>G | |
| ENST00000621016.4:c.1565+26C>G | ENSP00000480664.1:n.1565+26C>G | |
| NM_004360.3:c.1565+26C>G , LRG_301t1:c.1565+26C>G | NP_004351.1:n.1565+26C>G | |
| XM_011523488.1:c.830+26C>G | XP_011521790.1:n.830+26C>G | |
| XM_011523489.1:c.830+26C>G | XP_011521791.1:n.830+26C>G | |
| NM_001317184.1:c.1382+26C>G | NP_001304113.1:n.1382+26C>G | |
| NM_001317185.1:c.17+26C>G | NP_001304114.1:n.17+26C>G | |
| NM_001317186.1:c.-255+26C>G | NP_001304115.1:n.-255+26C>G | |
| NM_004360.4:c.1565+26C>G | NP_004351.1:n.1565+26C>G | |
| NM_004360.5:c.1565+26C>G MANE Select | NP_004351.1:n.1565+26C>G | |
| NM_001317184.2:c.1382+26C>G | NP_001304113.1:n.1382+26C>G | |
| NM_001317185.2:c.17+26C>G | NP_001304114.1:n.17+26C>G | |
| NM_001317186.2:c.-255+26C>G | NP_001304115.1:n.-255+26C>G |