Linked Data
dbSNP Id:
rs1002695249
gnomAD v3:
11-88294410-G-A
gnomAD v4:
11-88294410-G-A
COSMIC:
COSM4514796
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294410G>A , CM000673.2:g.88294410G>A | GRCh38 |
| NC_000011.9:g.88027578G>A , CM000673.1:g.88027578G>A | GRCh37 |
| NC_000011.8:g.87667226G>A | NCBI36 |
| NG_007952.1:g.48364C>T , LRG_50:g.48364C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.988C>T MANE Select | ENSP00000227266.4:p.Pro330Ser | |
| ENST00000533897.2:n.5301C>T | ||
| ENST00000676612.1:c.*795C>T | ENSP00000504440.1:n.*795C>T | |
| ENST00000677208.1:c.*494C>T | ENSP00000504347.1:n.*494C>T | |
| ENST00000677661.1:c.*665C>T | ENSP00000503323.1:n.*665C>T | |
| ENST00000677802.1:c.*665C>T | ENSP00000504115.1:n.*665C>T | |
| ENST00000678395.1:c.*494C>T | ENSP00000503123.1:n.*494C>T | |
| ENST00000678464.1:c.955C>T | ENSP00000503046.1:p.Pro319Ser | |
| ENST00000678506.1:c.949C>T | ENSP00000503580.1:p.Pro317Ser | |
| ENST00000678520.1:c.*639C>T | ENSP00000503361.1:n.*639C>T | |
| ENST00000678554.1:c.889+1723C>T | ENSP00000504541.1:n.889+1723C>T | |
| ENST00000678915.1:c.856C>T | ENSP00000504805.1:p.Pro286Ser | |
| ENST00000679224.1:c.625C>T | ENSP00000504475.1:p.Pro209Ser | |
| ENST00000227266.9:c.988C>T | ENSP00000227266.4:p.Pro330Ser | |
| ENST00000533897.1:n.3722C>T | ||
| NM_001814.4:c.988C>T , LRG_50t1:c.988C>T | NP_001805.3:p.Pro330Ser | |
| NM_001814.5:c.988C>T | NP_001805.3:p.Pro330Ser | |
| NM_001814.6:c.988C>T MANE Select | NP_001805.4:p.Pro330Ser |