Linked Data
ClinVar Variation Id:
140553
dbSNP Id:
rs137854526
ExAC:
11:22283777 T / C
gnomAD v2:
11-22283777-T-C
gnomAD v3:
11-22262231-T-C
gnomAD v4:
11-22262231-T-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22262231T>C , CM000673.2:g.22262231T>C | GRCh38 |
| NC_000011.9:g.22283777T>C , CM000673.1:g.22283777T>C | GRCh37 |
| NC_000011.8:g.22240353T>C | NCBI36 |
| NG_015844.1:g.74056T>C , LRG_868:g.74056T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682266.1:c.1283T>C | ENSP00000507766.1:p.Phe428Ser | |
| ENST00000682341.1:c.1691T>C | ENSP00000508251.1:p.Phe564Ser | |
| ENST00000683197.1:c.1691T>C | ENSP00000507641.1:p.Phe564Ser | |
| ENST00000683411.1:c.1283T>C | ENSP00000508397.1:p.Phe428Ser | |
| ENST00000683437.1:c.1283T>C | ENSP00000508408.1:p.Phe428Ser | |
| ENST00000683613.1:n.2727T>C | ||
| ENST00000684663.1:c.1688T>C | ENSP00000508009.1:p.Phe563Ser | |
| ENST00000324559.9:c.1733T>C MANE Select | ENSP00000315371.9:p.Phe578Ser | |
| ENST00000648804.1:n.2068T>C | ||
| ENST00000324559.8:c.1733T>C | ENSP00000315371.8:p.Phe578Ser | |
| NM_001142649.1:c.1730T>C | NP_001136121.1:p.Phe577Ser | |
| NM_213599.2:c.1733T>C , LRG_868t1:c.1733T>C | NP_998764.1:p.Phe578Ser | |
| XM_005252820.2:c.1691T>C | XP_005252877.2:p.Phe564Ser | |
| XM_005252821.2:c.1688T>C | XP_005252878.2:p.Phe563Ser | |
| XM_005252822.3:c.1655T>C | XP_005252879.1:p.Phe552Ser | |
| XM_005252823.3:c.1652T>C | XP_005252880.1:p.Phe551Ser | |
| XM_011519949.1:c.1640T>C | XP_011518251.1:p.Phe547Ser | |
| XM_005252820.3:c.1691T>C | XP_005252877.2:p.Phe564Ser | |
| XM_005252821.3:c.1688T>C | XP_005252878.2:p.Phe563Ser | |
| XM_005252822.4:c.1655T>C | XP_005252879.1:p.Phe552Ser | |
| XM_011519949.2:c.1640T>C | XP_011518251.1:p.Phe547Ser | |
| NM_001142649.2:c.1730T>C | NP_001136121.1:p.Phe577Ser | |
| NM_213599.3:c.1733T>C MANE Select | NP_998764.1:p.Phe578Ser |