Linked Data
dbSNP Id:
rs753414433
ExAC:
11:1775120 G / A
gnomAD v2:
11-1775120-G-A
gnomAD v3:
11-1753890-G-A
gnomAD v4:
11-1753890-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753890G>A , CM000673.2:g.1753890G>A | GRCh38 |
| NC_000011.9:g.1775120G>A , CM000673.1:g.1775120G>A | GRCh37 |
| NC_000011.8:g.1731696G>A | NCBI36 |
| NG_008655.1:g.15103C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.984C>T MANE Select | ENSP00000236671.2:p.Pro328= | |
| ENST00000367196.4:c.879C>T | ENSP00000356164.4:p.Pro293= | |
| ENST00000427721.3:c.409C>T | ||
| ENST00000429746.2:c.879C>T | ENSP00000402586.2:p.Pro293= | |
| ENST00000433655.6:c.*150C>T | ENSP00000404902.1:n.*150C>T | |
| ENST00000438213.6:c.1101C>T | ENSP00000415036.2:p.Pro367= | |
| ENST00000497544.3:n.692C>T | ||
| ENST00000636397.1:c.984C>T | ENSP00000489910.1:p.Pro328= | |
| ENST00000636571.1:c.963C>T | ENSP00000490770.1:p.Pro321= | |
| ENST00000636615.1:c.984C>T | ENSP00000490014.1:p.Pro328= | |
| ENST00000636843.1:c.978C>T | ENSP00000490897.1:p.Pro326= | |
| ENST00000637158.1:n.582C>T | ||
| ENST00000637381.2:n.3412C>T | ||
| ENST00000637387.1:c.973-10C>T | ENSP00000490598.1:n.973-10C>T | |
| ENST00000637815.2:c.966C>T | ENSP00000490344.1:p.Pro322= | |
| ENST00000637915.1:c.984C>T | ENSP00000490471.1:p.Pro328= | |
| ENST00000637937.1:n.292C>T | ||
| ENST00000678991.1:c.*845C>T | ENSP00000503019.1:n.*845C>T | |
| ENST00000236671.6:c.984C>T | ENSP00000236671.2:p.Pro328= | |
| ENST00000427721.2:c.384C>T | ENSP00000415840.2:p.Pro128= | |
| ENST00000429746.1:c.315C>T | ENSP00000402586.1:p.Pro105= | |
| ENST00000433655.5:c.*150C>T | ENSP00000404902.1:n.*150C>T | |
| ENST00000497544.1:n.692C>T | ||
| NM_001909.4:c.984C>T | NP_001900.1:p.Pro328= | |
| NM_001909.5:c.984C>T MANE Select | NP_001900.1:p.Pro328= |