Linked Data
ClinVar Variation Id:
2188449
ClinVar RCV Id:
RCV002620235
dbSNP Id:
rs748451757
ExAC:
10:121432134 C / T
gnomAD v2:
10-121432134-C-T
gnomAD v3:
10-119672622-C-T
gnomAD v4:
10-119672622-C-T
COSMIC:
COSM915383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672622C>T , CM000672.2:g.119672622C>T | GRCh38 |
| NC_000010.10:g.121432134C>T , CM000672.1:g.121432134C>T | GRCh37 |
| NC_000010.9:g.121422124C>T | NCBI36 |
| NG_016125.1:g.26253C>T , LRG_742:g.26253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.875C>T MANE Select | ENSP00000358081.4:p.Pro292Leu | |
| ENST00000369085.7:c.875C>T | ENSP00000358081.3:p.Pro292Leu | |
| ENST00000450186.1:c.701C>T | ENSP00000410036.1:p.Pro234Leu | |
| NM_004281.3:c.875C>T , LRG_742t1:c.875C>T | NP_004272.2:p.Pro292Leu | |
| XM_005270287.1:c.875C>T | XP_005270344.1:p.Pro292Leu | |
| XM_005270287.2:c.875C>T | XP_005270344.1:p.Pro292Leu | |
| NM_004281.4:c.875C>T MANE Select | NP_004272.2:p.Pro292Leu |