Linked Data
dbSNP Id:
rs4783689
gnomAD v2:
16-68853671-C-T
gnomAD v3:
16-68819768-C-T
gnomAD v4:
16-68819768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68819768C>T , CM000678.2:g.68819768C>T | GRCh38 |
| NC_000016.9:g.68853671C>T , CM000678.1:g.68853671C>T | GRCh37 |
| NC_000016.8:g.67411172C>T | NCBI36 |
| NG_008021.1:g.87477C>T , LRG_301:g.87477C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1711+343C>T MANE Select | ENSP00000261769.4:n.1711+343C>T | |
| ENST00000261769.9:c.1711+343C>T | ENSP00000261769.4:n.1711+343C>T | |
| ENST00000422392.6:c.1528+343C>T | ENSP00000414946.2:n.1528+343C>T | |
| ENST00000562836.5:n.1782+343C>T | ||
| ENST00000566510.5:c.*377+343C>T | ENSP00000458139.1:n.*377+343C>T | |
| ENST00000566612.5:c.1566-2233C>T | ENSP00000454782.1:n.1566-2233C>T | |
| ENST00000611625.4:c.1774+343C>T | ENSP00000481063.1:n.1774+343C>T | |
| ENST00000612417.4:c.1711+343C>T | ENSP00000478360.1:n.1711+343C>T | |
| ENST00000621016.4:c.1711+343C>T | ENSP00000480664.1:n.1711+343C>T | |
| NM_004360.3:c.1711+343C>T , LRG_301t1:c.1711+343C>T | NP_004351.1:n.1711+343C>T | |
| XM_011523488.1:c.976+343C>T | XP_011521790.1:n.976+343C>T | |
| XM_011523489.1:c.976+343C>T | XP_011521791.1:n.976+343C>T | |
| NM_001317184.1:c.1528+343C>T | NP_001304113.1:n.1528+343C>T | |
| NM_001317185.1:c.163+343C>T | NP_001304114.1:n.163+343C>T | |
| NM_001317186.1:c.-254-2233C>T | NP_001304115.1:n.-254-2233C>T | |
| NM_004360.4:c.1711+343C>T | NP_004351.1:n.1711+343C>T | |
| NM_004360.5:c.1711+343C>T MANE Select | NP_004351.1:n.1711+343C>T | |
| NM_001317184.2:c.1528+343C>T | NP_001304113.1:n.1528+343C>T | |
| NM_001317185.2:c.163+343C>T | NP_001304114.1:n.163+343C>T | |
| NM_001317186.2:c.-254-2233C>T | NP_001304115.1:n.-254-2233C>T |