Linked Data
ClinVar Variation Id:
478823
ClinVar RCV Id:
RCV000528005
dbSNP Id:
rs771866012
gnomAD v2:
10-73767280-C-T
gnomAD v4:
10-72007522-C-T
COSMIC:
COSM1284132
PubMed:
PMID:27753269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007522C>T , CM000672.2:g.72007522C>T | GRCh38 |
| NC_000010.10:g.73767280C>T , CM000672.1:g.73767280C>T | GRCh37 |
| NC_000010.9:g.73437286C>T | NCBI36 |
| NG_012635.1:g.48161C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.491C>T MANE Select | ENSP00000362207.4:p.Pro164Leu | |
| ENST00000373115.4:c.491C>T | ENSP00000362207.4:p.Pro164Leu | |
| NM_004273.4:c.491C>T | NP_004264.2:p.Pro164Leu | |
| XM_006718075.2:c.491C>T | XP_006718138.1:p.Pro164Leu | |
| XM_011540369.1:c.491C>T | XP_011538671.1:p.Pro164Leu | |
| XM_006718075.4:c.491C>T | XP_006718138.1:p.Pro164Leu | |
| XM_011540369.2:c.491C>T | XP_011538671.1:p.Pro164Leu | |
| NM_004273.5:c.491C>T MANE Select | NP_004264.2:p.Pro164Leu |