Linked Data
ClinVar Variation Id:
135283
dbSNP Id:
rs368178771
ExAC:
10:104375047 A / G
gnomAD v2:
10-104375047-A-G
gnomAD v3:
10-102615290-A-G
gnomAD v4:
10-102615290-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102615290A>G , CM000672.2:g.102615290A>G | GRCh38 |
| NC_000010.10:g.104375047A>G , CM000672.1:g.104375047A>G | GRCh37 |
| NC_000010.9:g.104365037A>G | NCBI36 |
| NG_021338.1:g.116329A>G , LRG_521:g.116329A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369902.8:c.1045A>G MANE Select | ENSP00000358918.4:p.Ser349Gly | |
| ENST00000369899.6:c.1045A>G | ENSP00000358915.2:p.Ser349Gly | |
| ENST00000369902.7:c.1045A>G | ENSP00000358918.3:p.Ser349Gly | |
| ENST00000423559.2:c.1045A>G | ENSP00000411597.2:p.Ser349Gly | |
| NM_001178133.1:c.1045A>G | NP_001171604.1:p.Ser349Gly | |
| NM_016169.3:c.1045A>G , LRG_521t1:c.1045A>G | NP_057253.2:p.Ser349Gly | |
| XM_011539858.1:c.1048A>G | XP_011538160.1:p.Ser350Gly | |
| XM_011539859.1:c.1048A>G | XP_011538161.1:p.Ser350Gly | |
| XM_011539860.1:c.1045A>G | XP_011538162.1:p.Ser349Gly | |
| XM_011539861.1:c.1048A>G | XP_011538163.1:p.Ser350Gly | |
| XM_011539862.1:c.970A>G | XP_011538164.1:p.Ser324Gly | |
| XM_011539863.1:c.874A>G | XP_011538165.1:p.Ser292Gly | |
| XM_011539864.1:c.1048A>G | XP_011538166.1:p.Ser350Gly | |
| XM_011539858.3:c.1048A>G | XP_011538160.1:p.Ser350Gly | |
| XM_011539860.3:c.1045A>G | XP_011538162.1:p.Ser349Gly | |
| XM_011539861.3:c.1048A>G | XP_011538163.1:p.Ser350Gly | |
| XM_011539863.3:c.874A>G | XP_011538165.1:p.Ser292Gly | |
| XM_011539864.3:c.1048A>G | XP_011538166.1:p.Ser350Gly | |
| XM_017016323.1:c.970A>G | XP_016871812.1:p.Ser324Gly | |
| NM_001178133.2:c.1045A>G | NP_001171604.1:p.Ser349Gly | |
| NM_016169.4:c.1045A>G MANE Select | NP_057253.2:p.Ser349Gly |