Linked Data
ClinVar Variation Id:
214842
dbSNP Id:
rs11540012
ExAC:
11:67375944 C / T
gnomAD v2:
11-67375944-C-T
gnomAD v3:
11-67608473-C-T
gnomAD v4:
11-67608473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67608473C>T , CM000673.2:g.67608473C>T | GRCh38 |
| NC_000011.9:g.67375944C>T , CM000673.1:g.67375944C>T | GRCh37 |
| NC_000011.8:g.67132520C>T | NCBI36 |
| NG_013353.1:g.6622C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.150C>T MANE Select | ENSP00000322450.6:p.Asp50= | |
| ENST00000647561.1:c.150C>T | ENSP00000497587.1:p.Asp50= | |
| ENST00000322776.10:c.150C>T | ENSP00000322450.6:p.Asp50= | |
| ENST00000415352.6:c.129C>T | ENSP00000395368.2:p.Asp43= | |
| ENST00000524838.5:n.207C>T | ||
| ENST00000524876.5:n.462C>T | ||
| ENST00000525086.5:n.197C>T | ||
| ENST00000526138.5:n.512C>T | ||
| ENST00000528314.1:c.-154C>T | ENSP00000434581.1:n.-154C>T | |
| ENST00000528328.1:c.99C>T | ENSP00000436906.1:p.Asp33= | |
| ENST00000528377.1:n.248C>T | ||
| ENST00000528548.5:n.519C>T | ||
| ENST00000529867.5:c.114C>T | ENSP00000434438.1:p.Asp38= | |
| ENST00000529927.5:c.123C>T | ENSP00000436766.1:p.Asp41= | |
| ENST00000530014.5:n.445C>T | ||
| ENST00000530103.5:c.*44C>T | ENSP00000434575.1:n.*44C>T | |
| ENST00000530638.1:c.41C>T | ENSP00000436936.1:p.Thr14Ile | |
| ENST00000532244.5:c.-154C>T | ENSP00000435202.1:n.-154C>T | |
| ENST00000532303.5:c.-148-79C>T | ENSP00000432015.1:n.-148-79C>T | |
| ENST00000532343.5:c.-154C>T | ENSP00000431751.1:n.-154C>T | |
| ENST00000533075.5:c.134+16C>T | ENSP00000437267.1:n.134+16C>T | |
| ENST00000534139.5:n.193C>T | ||
| NM_001166102.1:c.123C>T | NP_001159574.1:p.Asp41= | |
| NM_007103.3:c.150C>T | NP_009034.2:p.Asp50= | |
| NM_001166102.2:c.123C>T | NP_001159574.1:p.Asp41= | |
| NM_007103.4:c.150C>T MANE Select | NP_009034.2:p.Asp50= |