Linked Data
dbSNP Id:
rs779795168
gnomAD v3:
11-88294326-C-A
gnomAD v4:
11-88294326-C-A
COSMIC:
COSM5815187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294326C>A , CM000673.2:g.88294326C>A | GRCh38 |
| NC_000011.9:g.88027494C>A , CM000673.1:g.88027494C>A | GRCh37 |
| NC_000011.8:g.87667142C>A | NCBI36 |
| NG_007952.1:g.48448G>T , LRG_50:g.48448G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.1072G>T MANE Select | ENSP00000227266.4:p.Ala358Ser | |
| ENST00000533897.2:n.5385G>T | ||
| ENST00000676612.1:c.*879G>T | ENSP00000504440.1:n.*879G>T | |
| ENST00000677208.1:c.*578G>T | ENSP00000504347.1:n.*578G>T | |
| ENST00000677661.1:c.*749G>T | ENSP00000503323.1:n.*749G>T | |
| ENST00000677802.1:c.*749G>T | ENSP00000504115.1:n.*749G>T | |
| ENST00000678395.1:c.*578G>T | ENSP00000503123.1:n.*578G>T | |
| ENST00000678464.1:c.1039G>T | ENSP00000503046.1:p.Ala347Ser | |
| ENST00000678506.1:c.1033G>T | ENSP00000503580.1:p.Ala345Ser | |
| ENST00000678520.1:c.*723G>T | ENSP00000503361.1:n.*723G>T | |
| ENST00000678554.1:c.889+1807G>T | ENSP00000504541.1:n.889+1807G>T | |
| ENST00000678915.1:c.940G>T | ENSP00000504805.1:p.Ala314Ser | |
| ENST00000679224.1:c.709G>T | ENSP00000504475.1:p.Ala237Ser | |
| ENST00000227266.9:c.1072G>T | ENSP00000227266.4:p.Ala358Ser | |
| ENST00000533897.1:n.3806G>T | ||
| NM_001814.4:c.1072G>T , LRG_50t1:c.1072G>T | NP_001805.3:p.Ala358Ser | |
| NM_001814.5:c.1072G>T | NP_001805.3:p.Ala358Ser | |
| NM_001814.6:c.1072G>T MANE Select | NP_001805.4:p.Ala358Ser |