Linked Data
ClinVar Variation Id:
161492
ClinVar RCV Id:
RCV000149026
dbSNP Id:
rs193920787
ExAC:
2:174946734 A / C
gnomAD v2:
2-174946734-A-C
gnomAD v4:
2-174082006-A-C
COSMIC:
COSM1179197
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174082006A>C , CM000664.2:g.174082006A>C | GRCh38 |
| NC_000002.11:g.174946734A>C , CM000664.1:g.174946734A>C | GRCh37 |
| NC_000002.10:g.174654980A>C | NCBI36 |
| NG_051001.1:g.171665T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284719.8:c.787T>G MANE Select | ENSP00000284719.3:p.Phe263Val | |
| ENST00000284719.7:c.787T>G | ENSP00000284719.3:p.Phe263Val | |
| ENST00000344357.9:c.313T>G | ENSP00000340167.5:p.Phe105Val | |
| ENST00000392560.6:n.290T>G | ||
| ENST00000409546.5:c.847T>G | ENSP00000386350.1:p.Phe283Val | |
| ENST00000428402.6:c.729-6479T>G | ENSP00000410385.2:n.729-6479T>G | |
| ENST00000462000.1:n.233T>G | ||
| NM_001011708.1:c.313T>G | NP_001011708.1:p.Phe105Val | |
| NM_013341.3:c.787T>G | NP_037473.3:p.Phe263Val | |
| NM_001011708.2:c.313T>G | NP_001011708.1:p.Phe105Val | |
| NM_001328688.1:c.729-5T>G | NP_001315617.1:n.729-5T>G | |
| NM_013341.4:c.787T>G | NP_037473.3:p.Phe263Val | |
| NM_013341.5:c.787T>G MANE Select | NP_037473.3:p.Phe263Val | |
| NM_001011708.3:c.313T>G | NP_001011708.1:p.Phe105Val | |
| NM_001328688.2:c.729-5T>G | NP_001315617.1:n.729-5T>G |