Linked Data
ClinVar Variation Id:
128344
dbSNP Id:
rs3765310
ExAC:
6:24503597 C / T
gnomAD v2:
6-24503597-C-T
gnomAD v3:
6-24503369-C-T
gnomAD v4:
6-24503369-C-T
COSMIC:
COSM4003828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503369C>T , CM000668.2:g.24503369C>T | GRCh38 |
| NC_000006.11:g.24503597C>T , CM000668.1:g.24503597C>T | GRCh37 |
| NC_000006.10:g.24611576C>T | NCBI36 |
| NG_008161.1:g.13401C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357578.8:c.545C>T MANE Select | ENSP00000350191.3:p.Pro182Leu | |
| ENST00000672352.1:c.308C>T | ENSP00000500876.1:p.Pro103Leu | |
| ENST00000672557.1:c.463C>T | ||
| ENST00000672652.1:c.466C>T | ||
| ENST00000675422.1:n.1305C>T | ||
| ENST00000348925.2:c.545C>T | ENSP00000314649.3:p.Pro182Leu | |
| ENST00000357578.7:c.545C>T | ENSP00000350191.3:p.Pro182Leu | |
| ENST00000491546.5:c.461C>T | ENSP00000417687.1:p.Pro154Leu | |
| NM_001080.3:c.545C>T MANE Select | NP_001071.1:p.Pro182Leu | |
| NM_170740.1:c.545C>T | NP_733936.1:p.Pro182Leu | |
| NM_001368954.1:c.545C>T | NP_001355883.1:p.Pro182Leu |