Linked Data
ClinVar Variation Id:
447088
dbSNP Id:
rs115351575
ExAC:
1:16352730 C / T
gnomAD v2:
1-16352730-C-T
gnomAD v3:
1-16026235-C-T
gnomAD v4:
1-16026235-C-T
COSMIC:
COSM3477529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16026235C>T , CM000663.2:g.16026235C>T | GRCh38 |
| NC_000001.10:g.16352730C>T , CM000663.1:g.16352730C>T | GRCh37 |
| NC_000001.9:g.16225317C>T | NCBI36 |
| NG_009359.1:g.9245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331433.5:c.486C>T MANE Select | ENSP00000332771.4:p.Phe162= | |
| ENST00000331433.4:c.486C>T | ENSP00000332771.4:p.Phe162= | |
| ENST00000375692.5:c.486C>T | ENSP00000364844.1:p.Phe162= | |
| ENST00000439316.6:c.357C>T | ENSP00000414445.2:p.Phe119= | |
| ENST00000464764.5:n.1049C>T | ||
| ENST00000495784.1:n.644C>T | ||
| NM_001042704.1:c.486C>T | NP_001036169.1:p.Phe162= | |
| NM_001257139.1:c.357C>T | NP_001244068.1:p.Phe119= | |
| NM_004070.3:c.486C>T | NP_004061.3:p.Phe162= | |
| NM_004070.4:c.486C>T MANE Select | NP_004061.3:p.Phe162= | |
| NM_001042704.2:c.486C>T | NP_001036169.1:p.Phe162= | |
| NM_001257139.2:c.357C>T | NP_001244068.1:p.Phe119= |