Linked Data
ClinVar Variation Id:
167451
dbSNP Id:
rs727504081
ExAC:
1:10689734 C / T
gnomAD v2:
1-10689734-C-T
gnomAD v3:
1-10629677-C-T
gnomAD v4:
1-10629677-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10629677C>T , CM000663.2:g.10629677C>T | GRCh38 |
| NC_000001.10:g.10689734C>T , CM000663.1:g.10689734C>T | GRCh37 |
| NC_000001.9:g.10612321C>T | NCBI36 |
| NG_008340.1:g.159732C>T | |
| NG_008340.2:g.159732C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.824C>T MANE Select | ENSP00000349016.4:p.Ser275Leu | |
| ENST00000356607.8:c.824C>T | ENSP00000349016.4:p.Ser275Leu | |
| NM_004565.2:c.824C>T | NP_004556.1:p.Ser275Leu | |
| XM_005263470.3:c.632C>T | XP_005263527.1:p.Ser211Leu | |
| XM_011541577.1:c.866C>T | XP_011539879.1:p.Ser289Leu | |
| XM_011541578.1:c.767C>T | XP_011539880.1:p.Ser256Leu | |
| XM_011541579.1:c.737C>T | XP_011539881.1:p.Ser246Leu | |
| XM_011541580.1:c.695C>T | XP_011539882.1:p.Ser232Leu | |
| XM_005263470.5:c.632C>T | XP_005263527.1:p.Ser211Leu | |
| XM_011541577.2:c.866C>T | XP_011539879.1:p.Ser289Leu | |
| XM_011541578.2:c.767C>T | XP_011539880.1:p.Ser256Leu | |
| XM_011541579.3:c.737C>T | XP_011539881.1:p.Ser246Leu | |
| XM_024447651.1:c.632C>T | XP_024303419.1:p.Ser211Leu | |
| NM_004565.3:c.824C>T MANE Select | NP_004556.1:p.Ser275Leu |