Linked Data
ClinVar Variation Id:
240087
dbSNP Id:
rs113247976
ExAC:
12:57975700 C / T
gnomAD v2:
12-57975700-C-T
gnomAD v3:
12-57581917-C-T
gnomAD v4:
12-57581917-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581917C>T , CM000674.2:g.57581917C>T | GRCh38 |
| NC_000012.11:g.57975700C>T , CM000674.1:g.57975700C>T | GRCh37 |
| NC_000012.10:g.56261967C>T | NCBI36 |
| NG_008155.1:g.36854C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2957C>T MANE Select | ENSP00000408979.2:p.Pro986Leu | |
| ENST00000674619.1:c.2978C>T | ENSP00000502270.1:p.Pro993Leu | |
| ENST00000675697.1:c.48C>T | ||
| ENST00000675737.1:n.361C>T | ||
| ENST00000675882.1:n.2480C>T | ||
| ENST00000675929.1:n.1515C>T | ||
| ENST00000676055.1:c.48C>T | ||
| ENST00000676457.1:c.2852C>T | ENSP00000501588.1:p.Pro951Leu | |
| ENST00000286452.5:c.2690C>T | ENSP00000286452.5:p.Pro897Leu | |
| ENST00000455537.6:c.2957C>T | ENSP00000408979.2:p.Pro986Leu | |
| ENST00000552227.1:n.240C>T | ||
| NM_004984.2:c.2957C>T | NP_004975.2:p.Pro986Leu | |
| NM_001354705.1:c.2690C>T | NP_001341634.1:p.Pro897Leu | |
| NM_004984.3:c.2957C>T | NP_004975.2:p.Pro986Leu | |
| XR_002957324.1:n.3190C>T | ||
| NM_004984.4:c.2957C>T MANE Select | NP_004975.2:p.Pro986Leu | |
| NM_001354705.2:c.2690C>T | NP_001341634.1:p.Pro897Leu |