Linked Data
ClinVar Variation Id:
214804
dbSNP Id:
rs141187412
ExAC:
11:47600876 C / T
gnomAD v2:
11-47600876-C-T
gnomAD v3:
11-47579324-C-T
gnomAD v4:
11-47579324-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47579324C>T , CM000673.2:g.47579324C>T | GRCh38 |
| NC_000011.9:g.47600876C>T , CM000673.1:g.47600876C>T | GRCh37 |
| NC_000011.8:g.47557452C>T | NCBI36 |
| NG_011946.1:g.5315C>T | |
| NG_011946.2:g.5315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.123C>T MANE Select | ENSP00000263774.4:p.Ala41= | |
| ENST00000531351.2:n.76C>T | ||
| ENST00000677462.1:n.92C>T | ||
| ENST00000678975.1:n.87C>T | ||
| ENST00000263774.8:c.123C>T | ENSP00000263774.4:p.Ala41= | |
| ENST00000524568.1:n.226C>T | ||
| ENST00000528192.5:c.123C>T | ENSP00000432099.1:p.Ala41= | |
| ENST00000529276.1:c.123C>T | ENSP00000433753.1:p.Ala41= | |
| ENST00000530295.5:c.67+166C>T | ENSP00000431588.1:n.67+166C>T | |
| ENST00000531351.1:n.57C>T | ||
| ENST00000533105.1:n.240C>T | ||
| ENST00000533507.5:n.816-1201C>T | ||
| ENST00000534208.5:c.123C>T | ENSP00000433405.1:p.Ala41= | |
| ENST00000534716.2:c.123C>T | ENSP00000434970.2:p.Ala41= | |
| NM_004551.2:c.123C>T | NP_004542.1:p.Ala41= | |
| NM_004551.3:c.123C>T MANE Select | NP_004542.1:p.Ala41= |