Linked Data
ClinVar Variation Id:
387057
dbSNP Id:
rs544831978
ExAC:
13:40261706 C / T
gnomAD v2:
13-40261706-C-T
gnomAD v3:
13-39687569-C-T
gnomAD v4:
13-39687569-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39687569C>T , CM000675.2:g.39687569C>T | GRCh38 |
| NC_000013.10:g.40261706C>T , CM000675.1:g.40261706C>T | GRCh37 |
| NC_000013.9:g.39159706C>T | NCBI36 |
| NG_028352.1:g.36943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.855C>T MANE Select | ENSP00000397441.2:p.Leu285= | |
| ENST00000356576.8:c.*692C>T | ENSP00000348983.4:n.*692C>T | |
| ENST00000416691.5:c.855C>T | ENSP00000403733.1:p.Leu285= | |
| ENST00000455146.7:c.855C>T | ENSP00000397441.2:p.Leu285= | |
| ENST00000460701.1:n.27C>T | ||
| ENST00000537156.1:n.506C>T | ||
| NM_001145079.1:c.855C>T | NP_001138551.1:p.Leu285= | |
| NM_020751.2:c.855C>T | NP_065802.1:p.Leu285= | |
| NR_026745.1:n.1020C>T | ||
| XM_011535168.1:c.855C>T | XP_011533470.1:p.Leu285= | |
| XM_011535169.1:c.699C>T | XP_011533471.1:p.Leu233= | |
| XM_011535170.1:c.699C>T | XP_011533472.1:p.Leu233= | |
| NM_020751.3:c.855C>T MANE Select | NP_065802.1:p.Leu285= | |
| NM_001145079.2:c.855C>T | NP_001138551.1:p.Leu285= |