Linked Data
ClinVar Variation Id:
7297
ClinVar RCV Id:
RCV001204386
dbSNP Id:
rs104894214
ExAC:
11:88027665 C / T
gnomAD v2:
11-88027665-C-T
gnomAD v3:
11-88294497-C-T
gnomAD v4:
11-88294497-C-T
PubMed:
PMID:11180012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294497C>T , CM000673.2:g.88294497C>T | GRCh38 |
| NC_000011.9:g.88027665C>T , CM000673.1:g.88027665C>T | GRCh37 |
| NC_000011.8:g.87667313C>T | NCBI36 |
| NG_007952.1:g.48277G>A , LRG_50:g.48277G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227266.10:c.901G>A MANE Select | ENSP00000227266.4:p.Gly301Ser | |
| ENST00000533897.2:n.5214G>A | ||
| ENST00000676612.1:c.*708G>A | ENSP00000504440.1:n.*708G>A | |
| ENST00000677208.1:c.*407G>A | ENSP00000504347.1:n.*407G>A | |
| ENST00000677661.1:c.*578G>A | ENSP00000503323.1:n.*578G>A | |
| ENST00000677802.1:c.*578G>A | ENSP00000504115.1:n.*578G>A | |
| ENST00000678395.1:c.*407G>A | ENSP00000503123.1:n.*407G>A | |
| ENST00000678464.1:c.890-22G>A | ENSP00000503046.1:n.890-22G>A | |
| ENST00000678506.1:c.862G>A | ENSP00000503580.1:p.Gly288Ser | |
| ENST00000678520.1:c.*552G>A | ENSP00000503361.1:n.*552G>A | |
| ENST00000678554.1:c.889+1636G>A | ENSP00000504541.1:n.889+1636G>A | |
| ENST00000678915.1:c.769G>A | ENSP00000504805.1:p.Gly257Ser | |
| ENST00000679224.1:c.538G>A | ENSP00000504475.1:p.Gly180Ser | |
| ENST00000227266.9:c.901G>A | ENSP00000227266.4:p.Gly301Ser | |
| ENST00000533897.1:n.3635G>A | ||
| NM_001814.4:c.901G>A , LRG_50t1:c.901G>A | NP_001805.3:p.Gly301Ser | |
| NM_001814.5:c.901G>A | NP_001805.3:p.Gly301Ser | |
| NM_001814.6:c.901G>A MANE Select | NP_001805.4:p.Gly301Ser |