Linked Data
ClinVar Variation Id:
222010
dbSNP Id:
rs869025316
gnomAD v2:
2-210783340-C-T
gnomAD v3:
2-209918616-C-T
gnomAD v4:
2-209918616-C-T
PubMed:
PMID:26708751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.209918616C>T , CM000664.2:g.209918616C>T | GRCh38 |
| NC_000002.11:g.210783340C>T , CM000664.1:g.210783340C>T | GRCh37 |
| NC_000002.10:g.210491585C>T | NCBI36 |
| NG_051361.1:g.151692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673920.1:c.5296C>T MANE Select | ENSP00000501211.1:p.Pro1766Ser | |
| ENST00000673951.1:c.5092C>T | ENSP00000501012.1:p.Pro1698Ser | |
| ENST00000272845.10:c.5083C>T | ENSP00000272845.5:p.Pro1695Ser | |
| ENST00000439458.5:c.5098C>T | ENSP00000391088.1:p.Pro1700Ser | |
| ENST00000489023.5:n.2623C>T | ||
| NM_032504.1:c.5098C>T | NP_115893.1:p.Pro1700Ser | |
| NM_182587.3:c.5083C>T | NP_872393.3:p.Pro1695Ser | |
| XM_005246476.1:c.5296C>T | XP_005246533.1:p.Pro1766Ser | |
| XM_011511004.1:c.5338C>T | XP_011509306.1:p.Pro1780Ser | |
| XM_011511005.1:c.5338C>T | XP_011509307.1:p.Pro1780Ser | |
| XM_011511006.1:c.5332C>T | XP_011509308.1:p.Pro1778Ser | |
| XM_011511007.1:c.5302C>T | XP_011509309.1:p.Pro1768Ser | |
| XM_011511008.1:c.5338C>T | XP_011509310.1:p.Pro1780Ser | |
| XM_011511009.1:c.5338C>T | XP_011509311.1:p.Pro1780Ser | |
| XM_011511010.1:c.5338C>T | XP_011509312.1:p.Pro1780Ser | |
| XM_011511011.1:c.5338C>T | XP_011509313.1:p.Pro1780Ser | |
| XM_011511012.1:c.5338C>T | XP_011509314.1:p.Pro1780Ser | |
| XM_011511010.2:c.5338C>T | XP_011509312.1:p.Pro1780Ser | |
| XM_017003884.1:c.5323C>T | XP_016859373.1:p.Pro1775Ser | |
| XM_017003885.1:c.5296C>T | XP_016859374.1:p.Pro1766Ser | |
| XM_017003886.1:c.5338C>T | XP_016859375.1:p.Pro1780Ser | |
| XM_017003887.1:c.5134C>T | XP_016859376.1:p.Pro1712Ser | |
| XM_017003888.1:c.5092C>T | XP_016859377.1:p.Pro1698Ser | |
| XM_017003889.1:c.5092C>T | XP_016859378.1:p.Pro1698Ser | |
| XM_017003890.1:c.5077C>T | XP_016859379.1:p.Pro1693Ser | |
| XM_017003891.1:c.4984C>T | XP_016859380.1:p.Pro1662Ser | |
| XM_017003892.1:c.2821C>T | XP_016859381.1:p.Pro941Ser | |
| XM_017003893.1:c.5338C>T | XP_016859382.1:p.Pro1780Ser | |
| XM_017003894.1:c.1522C>T | XP_016859383.1:p.Pro508Ser | |
| XR_002959283.1:n.5418C>T | ||
| NM_001371986.1:c.5296C>T MANE Select | NP_001358915.1:p.Pro1766Ser | |
| NM_182587.4:c.5083C>T | NP_872393.3:p.Pro1695Ser | |
| NM_032504.2:c.5098C>T | NP_115893.1:p.Pro1700Ser |