Linked Data
ClinVar Variation Id:
208924
ClinVar RCV Id:
RCV000201378
dbSNP Id:
rs863223382
gnomAD v4:
10-86206447-G-A
COSMIC:
COSM3441163
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86206447G>A , CM000672.2:g.86206447G>A | GRCh38 |
| NC_000010.10:g.87966204G>A , CM000672.1:g.87966204G>A | GRCh37 |
| NC_000010.9:g.87956184G>A | NCBI36 |
| NG_011875.1:g.165047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327946.12:c.437C>T MANE Select | ENSP00000330148.7:p.Pro146Leu | |
| ENST00000327946.11:c.437C>T | ENSP00000330148.7:p.Pro146Leu | |
| ENST00000464741.2:c.437C>T | ENSP00000433064.1:p.Pro146Leu | |
| NM_017551.2:c.437C>T | NP_060021.1:p.Pro146Leu | |
| XM_011539720.1:c.437C>T | XP_011538022.1:p.Pro146Leu | |
| XM_011539720.2:c.437C>T | XP_011538022.1:p.Pro146Leu | |
| NM_017551.3:c.437C>T MANE Select | NP_060021.1:p.Pro146Leu |