Linked Data
ClinVar Variation Id:
375248
ClinVar RCV Id:
RCV001542029
dbSNP Id:
rs775141057
ExAC:
12:106889893 C / T
gnomAD v2:
12-106889893-C-T
gnomAD v3:
12-106496115-C-T
gnomAD v4:
12-106496115-C-T
COSMIC:
COSM3455492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106496115C>T , CM000674.2:g.106496115C>T | GRCh38 |
| NC_000012.11:g.106889893C>T , CM000674.1:g.106889893C>T | GRCh37 |
| NC_000012.10:g.105414023C>T | NCBI36 |
| NG_031837.1:g.143458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.2774C>T MANE Select | ENSP00000228347.4:p.Pro925Leu | |
| ENST00000228347.8:c.2774C>T | ENSP00000228347.4:p.Pro925Leu | |
| ENST00000539066.5:c.2600C>T | ENSP00000445721.1:p.Pro867Leu | |
| NM_001160708.1:c.2600C>T | NP_001154180.1:p.Pro867Leu | |
| NM_018082.5:c.2774C>T | NP_060552.4:p.Pro925Leu | |
| XM_017019621.2:c.2774C>T | XP_016875110.1:p.Pro925Leu | |
| NM_018082.6:c.2774C>T MANE Select | NP_060552.4:p.Pro925Leu | |
| NM_001160708.2:c.2600C>T | NP_001154180.1:p.Pro867Leu |